chr8:128413305:G>T Detail (hg19) (POU5F1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:128,413,305-128,413,305 |
| hg38 | chr8:127,401,060-127,401,060 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000645438.1:c.-559-13828G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.670 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.020 | Malignant neoplasm of prostate | Forty-nine tagging SNPs including three previously reported significant variants... | BeFree | 19562729 | Detail |
| 0.012 | prostate carcinoma | Forty-nine tagging SNPs including three previously reported significant variants... | BeFree | 19562729 | Detail |
| 0.003 | Malignant neoplasm of prostate | These included correlations between an intergenic CpG site at Chr8:128393157 and... | BeFree | 25315430 | Detail |
| <0.001 | colorectal carcinoma | These included correlations between an intergenic CpG site at Chr8:128393157 and... | BeFree | 25315430 | Detail |
| <0.001 | colorectal cancer | These included correlations between an intergenic CpG site at Chr8:128393157 and... | BeFree | 25315430 | Detail |
| <0.001 | colorectal cancer | These included correlations between an intergenic CpG site at Chr8:128393157 and... | BeFree | 25315430 | Detail |
| 0.001 | prostate carcinoma | These included correlations between an intergenic CpG site at Chr8:128393157 and... | BeFree | 25315430 | Detail |
| 0.121 | Malignant neoplasm of prostate | These included correlations between an intergenic CpG site at Chr8:128393157 and... | BeFree | 25315430 | Detail |
| <0.001 | prostate carcinoma | These included correlations between an intergenic CpG site at Chr8:128393157 and... | BeFree | 25315430 | Detail |
| <0.001 | colorectal carcinoma | These included correlations between an intergenic CpG site at Chr8:128393157 and... | BeFree | 25315430 | Detail |
| 0.006 | colorectal carcinoma | We found indications that aspirin interacted with rs6983267 close to MYC (encodi... | BeFree | 24889212 | Detail |
| 0.013 | colorectal cancer | We found indications that aspirin interacted with rs6983267 close to MYC (encodi... | BeFree | 24889212 | Detail |
| 0.011 | colorectal cancer | We found indications that aspirin interacted with rs6983267 close to MYC (encodi... | BeFree | 24889212 | Detail |
| 0.012 | colorectal carcinoma | We found indications that aspirin interacted with rs6983267 close to MYC (encodi... | BeFree | 24889212 | Detail |
| 0.124 | Papillary thyroid carcinoma | In a multicenter retrospective case-control study, five thyroid cancer-related S... | BeFree | 25562676 | Detail |
| 0.007 | Thyroid carcinoma | In a multicenter retrospective case-control study, five thyroid cancer-related S... | BeFree | 25562676 | Detail |
| <0.001 | Papillary thyroid carcinoma | In a multicenter retrospective case-control study, five thyroid cancer-related S... | BeFree | 25562676 | Detail |
| 0.002 | Malignant neoplasm of thyroid | In a multicenter retrospective case-control study, five thyroid cancer-related S... | BeFree | 25562676 | Detail |
| 0.027 | colorectal cancer | Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism i... | BeFree | 21567271 | Detail |
| 0.011 | colorectal carcinoma | Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism i... | BeFree | 21567271 | Detail |
| 0.162 | colorectal cancer | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs698... | BeFree | 21242260 | Detail |
| 0.009 | colorectal carcinoma | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs698... | BeFree | 21242260 | Detail |
| 0.011 | colorectal carcinoma | In our previous work, we showed that the colorectal cancer (CRC) risk variant rs... | BeFree | 22429595 | Detail |
| 0.120 | colorectal cancer | Common variant in 6q26-q27 is associated with distal colon cancer in an Asian po... | GWASCAT | 21242260 | Detail |
| 0.011 | colorectal carcinoma | The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC s... | BeFree | 24317174 | Detail |
| 0.004 | colon carcinoma | We show that the beta-catenin-TCF4 transcription factor complex binds preferenti... | BeFree | 20065031 | Detail |
| 0.012 | colorectal carcinoma | The rs6983267 SNP is associated with MYC transcription efficiency, which promote... | BeFree | 22976378 | Detail |
| 0.120 | colorectal cancer | Large-scale genetic study in East Asians identifies six new loci associated with... | GWASCAT | 24836286 | Detail |
| 0.011 | colorectal cancer | A region spanning the single nucleotide polymorphism rs6983267, which lies withi... | BeFree | 20696899 | Detail |
| 0.011 | colorectal cancer | The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC s... | BeFree | 24317174 | Detail |
| 0.004 | Malignant tumor of colon | We show that the beta-catenin-TCF4 transcription factor complex binds preferenti... | BeFree | 20065031 | Detail |
| 0.120 | Malignant neoplasm of prostate | Multiple newly identified loci associated with prostate cancer susceptibility. | GWASCAT | 18264097 | Detail |
| 0.120 | Malignant neoplasm of prostate | Genome-wide association study of prostate cancer identifies a second risk locus ... | GWASCAT | 17401363 | Detail |
| 0.080 | breast carcinoma | In addition, there was a negligible association between rs6983267 and BC risk in... | BeFree | 24414391 | Detail |
| 0.120 | colorectal cancer | A genome-wide association study identifies colorectal cancer susceptibility loci... | GWASCAT | 18372905 | Detail |
| 0.120 | Malignant neoplasm of prostate | Genome-wide association scan for variants associated with early-onset prostate c... | GWASCAT | 24740154 | Detail |
| 0.011 | colorectal cancer | The rs6983267 SNP is associated with MYC transcription efficiency, which promote... | BeFree | 22976378 | Detail |
| 0.080 | breast carcinoma | In addition, there was a negligible association between rs6983267 and BC risk in... | BeFree | 24414391 | Detail |
| 0.012 | colorectal carcinoma | A region spanning the single nucleotide polymorphism rs6983267, which lies withi... | BeFree | 20696899 | Detail |
| 0.240 | Malignant neoplasm of breast | In addition, there was a negligible association between rs6983267 and BC risk in... | BeFree | 24414391 | Detail |
| 0.012 | colorectal carcinoma | The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC s... | BeFree | 24317174 | Detail |
| 0.011 | colorectal carcinoma | Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cance... | BeFree | 24317174 | Detail |
| 0.012 | colorectal carcinoma | The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in ... | BeFree | 19561607 | Detail |
| 0.120 | Malignant neoplasm of prostate | Multiple loci identified in a genome-wide association study of prostate cancer. | GWASCAT | 18264096 | Detail |
| 0.120 | colorectal cancer | A genome-wide association scan of tag SNPs identifies a susceptibility variant f... | GWASCAT | 17618284 | Detail |
| 0.120 | Malignant neoplasm of prostate | Genetic variation in prostate-specific antigen-detected prostate cancer and the ... | GWASCAT | 24753544 | Detail |
| 0.120 | colorectal cancer | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-... | GWASCAT | 23266556 | Detail |
| 0.136 | colorectal cancer | In our previous work, we showed that the colorectal cancer (CRC) risk variant rs... | BeFree | 22429595 | Detail |
| 0.132 | Malignant neoplasm of breast | In addition, there was a negligible association between rs6983267 and BC risk in... | BeFree | 24414391 | Detail |
| 0.011 | colorectal cancer | The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in ... | BeFree | 19561607 | Detail |
| 0.136 | colorectal cancer | The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC s... | BeFree | 24317174 | Detail |
| 0.142 | colorectal cancer | Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cance... | BeFree | 24317174 | Detail |
| 0.014 | Malignant tumor of colon | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.009 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.013 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.003 | colon carcinoma | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.006 | Malignant tumor of colon | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.008 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.010 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.004 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.126 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.004 | Malignant tumor of colon | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.162 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.004 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.003 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| <0.001 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.005 | colon carcinoma | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.011 | colon carcinoma | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.171 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.002 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Forty-nine tagging SNPs including three previously reported significant variants (rs1447295, rs69832... | DisGeNET | Detail |
| Forty-nine tagging SNPs including three previously reported significant variants (rs1447295, rs69832... | DisGeNET | Detail |
| These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... | DisGeNET | Detail |
| These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... | DisGeNET | Detail |
| These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... | DisGeNET | Detail |
| These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... | DisGeNET | Detail |
| These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... | DisGeNET | Detail |
| These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... | DisGeNET | Detail |
| These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... | DisGeNET | Detail |
| These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... | DisGeNET | Detail |
| We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription f... | DisGeNET | Detail |
| We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription f... | DisGeNET | Detail |
| We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription f... | DisGeNET | Detail |
| We found indications that aspirin interacted with rs6983267 close to MYC (encoding a transcription f... | DisGeNET | Detail |
| In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... | DisGeNET | Detail |
| In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... | DisGeNET | Detail |
| In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... | DisGeNET | Detail |
| In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... | DisGeNET | Detail |
| Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the ri... | DisGeNET | Detail |
| Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the ri... | DisGeNET | Detail |
| Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 ... | DisGeNET | Detail |
| Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 ... | DisGeNET | Detail |
| In our previous work, we showed that the colorectal cancer (CRC) risk variant rs6983267 at 8q24 resi... | DisGeNET | Detail |
| Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population. | DisGeNET | Detail |
| The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC susceptibility locus ... | DisGeNET | Detail |
| We show that the beta-catenin-TCF4 transcription factor complex binds preferentially to the cancer r... | DisGeNET | Detail |
| The rs6983267 SNP is associated with MYC transcription efficiency, which promotes progression and wo... | DisGeNET | Detail |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer r... | DisGeNET | Detail |
| A region spanning the single nucleotide polymorphism rs6983267, which lies within a MYC enhancer and... | DisGeNET | Detail |
| The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC susceptibility locus ... | DisGeNET | Detail |
| We show that the beta-catenin-TCF4 transcription factor complex binds preferentially to the cancer r... | DisGeNET | Detail |
| Multiple newly identified loci associated with prostate cancer susceptibility. | DisGeNET | Detail |
| Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. | DisGeNET | Detail |
| In addition, there was a negligible association between rs6983267 and BC risk in the ER-/PR- subgrou... | DisGeNET | Detail |
| A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p1... | DisGeNET | Detail |
| Genome-wide association scan for variants associated with early-onset prostate cancer. | DisGeNET | Detail |
| The rs6983267 SNP is associated with MYC transcription efficiency, which promotes progression and wo... | DisGeNET | Detail |
| In addition, there was a negligible association between rs6983267 and BC risk in the ER-/PR- subgrou... | DisGeNET | Detail |
| A region spanning the single nucleotide polymorphism rs6983267, which lies within a MYC enhancer and... | DisGeNET | Detail |
| In addition, there was a negligible association between rs6983267 and BC risk in the ER-/PR- subgrou... | DisGeNET | Detail |
| The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC susceptibility locus ... | DisGeNET | Detail |
| Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB... | DisGeNET | Detail |
| The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. | DisGeNET | Detail |
| Multiple loci identified in a genome-wide association study of prostate cancer. | DisGeNET | Detail |
| A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer... | DisGeNET | Detail |
| Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control se... | DisGeNET | Detail |
| Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | DisGeNET | Detail |
| In our previous work, we showed that the colorectal cancer (CRC) risk variant rs6983267 at 8q24 resi... | DisGeNET | Detail |
| In addition, there was a negligible association between rs6983267 and BC risk in the ER-/PR- subgrou... | DisGeNET | Detail |
| The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. | DisGeNET | Detail |
| The single nucleotide polymorphism (SNP) rs6983267 on chromosome 8q24 is a CRC susceptibility locus ... | DisGeNET | Detail |
| Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6983267 dbSNP
- Genome
- hg19
- Position
- chr8:128,413,305-128,413,305
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs6983267
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6699
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11228
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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