chr2:191894302:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:191,894,302-192,038,172 |
| hg38 | chr2:191,029,576-191,173,446 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Cardiovascular Diseases | NA | BeFree | Detail | |
| 0.121 | Primary biliary cirrhosis | STAT4 gene polymorphism has been shown to be associated with the antiviral respo... | BeFree,GWASCAT | 25798064 | Detail |
| 0.006 | ulcerative colitis | NA | BeFree,GAD | Detail | |
| <0.001 | colorectal carcinoma | Silencing of stat4 gene inhibits cell proliferation and invasion of colorectal c... | BeFree | 25864744 | Detail |
| <0.001 | Connective Tissue Diseases | NA | BeFree | Detail | |
| 0.006 | Crohn Disease | NA | BeFree,GAD | Detail | |
| <0.001 | dermatomyositis | NA | BeFree | Detail | |
| <0.001 | scleroderma | NA | BeFree | Detail | |
| 0.089 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD,MGD | Detail | |
| <0.001 | Eczema | NA | BeFree | Detail | |
| 0.080 | Experimental Autoimmune Encephalomyelitis | NA | BeFree,RGD | Detail | |
| 0.002 | endometriosis | NA | GAD | Detail | |
| 0.080 | Fatty Liver, Alcoholic | NA | RGD | Detail | |
| <0.001 | glomerulonephritis | NA | BeFree | Detail | |
| 0.003 | IgA glomerulonephritis | NA | BeFree,GAD | Detail | |
| <0.001 | membranous glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | Graves Disease | The aim of this study was to explore the association of STAT4 polymorphism with ... | BeFree | 25019342 | Detail |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| <0.001 | Hematological Disease | NA | BeFree | Detail | |
| 0.001 | hepatitis B | Association of HLA-DP/DQ, STAT4 and IL-28B variants with HBV viral clearance in ... | BeFree | 25041342 | Detail |
| 0.001 | hepatitis B | Association of HLA-DP/DQ and STAT4 polymorphisms with HBV infection outcomes and... | BeFree | 25365208 | Detail |
| 0.001 | hepatitis B | STAT4 genetic polymorphisms association with spontaneous clearance of hepatitis ... | BeFree | 25829184 | Detail |
| 0.001 | hepatitis B | The level of STAT4 expression in the HCC liver tissues was significantly lower t... | BeFree | 25852285 | Detail |
| <0.001 | hepatitis C | NA | BeFree | Detail | |
| <0.001 | genital herpes | NA | BeFree | Detail | |
| <0.001 | Herpes Simplex Infections | NA | BeFree | Detail | |
| <0.001 | hyperthyroidism | NA | BeFree | Detail | |
| 0.122 | Inflammatory Bowel Diseases | NA | BeFree,GWASCAT | Detail | |
| <0.001 | irritable bowel syndrome | NA | BeFree | Detail | |
| <0.001 | Kidney Failure, Chronic | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| 0.120 | Biliary cirrhosis | NA | CTD_human | Detail | |
| 0.001 | Liver diseases | Several genome-wide association studies have revealed that HLA-DP/DQ, STAT4 and ... | BeFree | 25041342 | Detail |
| 0.001 | Liver diseases | Signal transducer and activator of transcription 4 in liver diseases. | BeFree | 25798064 | Detail |
| 0.001 | Liver diseases | These findings indicate that STAT4 minor allele may be associated with the spont... | BeFree | 25829184 | Detail |
| 0.080 | Chronic Obstructive Airway Disease | SOX6,STAT4 and IL1RL1 were induced in COPD after LPS stimulation. | BeFree,RGD | 25634111 | Detail |
| <0.001 | Lupus Vulgaris | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Discoid | NA | BeFree | Detail | |
| 0.324 | Lupus Erythematosus, Systemic | STAT4 and IL10 confirm their association with SLE. | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 25369137 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | STAT4 SNP in Japanese patients with SLE and/or APS. | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 25524556 | Detail |
| 0.005 | lupus nephritis | NA | BeFree,GAD | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.120 | multiple sclerosis | NA | BeFree,CTD_human | Detail | |
| <0.001 | Mycobacterium avium-intracellulare Infection | NA | BeFree | Detail | |
| <0.001 | Mycobacterium Infections, Nontuberculous | NA | BeFree | Detail | |
| <0.001 | mycosis fungoides | Reduced expression of FOXP3 and STAT4 and increased expression of IL-4 relative ... | BeFree | 24171863 | Detail |
| <0.001 | mycosis fungoides | In summary, our results suggest that loss of STAT4 expression and associated swi... | BeFree | 25486484 | Detail |
| 0.080 | obesity | NA | RGD | Detail | |
| <0.001 | Protein Deficiency | NA | BeFree | Detail | |
| 0.003 | psoriasis | NA | BeFree,GAD | Detail | |
| <0.001 | pulmonary eosinophilia | NA | BeFree | Detail | |
| 0.003 | pulmonary fibrosis | NA | BeFree,GAD | Detail | |
| <0.001 | kidney failure | NA | BeFree | Detail | |
| 0.002 | Respiratory Syncytial Virus Infections | NA | GAD | Detail | |
| 0.257 | systemic scleroderma | NA | BeFree,CTD_human,GAD,GWASCAT | Detail | |
| 0.002 | Sclerosis | NA | GAD | Detail | |
| <0.001 | Sezary syndrome | NA | BeFree | Detail | |
| <0.001 | synovitis | NA | BeFree | Detail | |
| <0.001 | Giant Cell Arteritis | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Tuberculosis, Pulmonary | NA | BeFree | Detail | |
| 0.003 | Uveomeningoencephalitic Syndrome | NA | BeFree,GAD | Detail | |
| <0.001 | Virus Diseases | STAT4 genetic polymorphisms association with spontaneous clearance of hepatitis ... | BeFree | 25829184 | Detail |
| 0.002 | vitiligo | NA | GAD | Detail | |
| <0.001 | Lymphoma, T-Cell, Cutaneous | Analysis of STAT4 expression in cutaneous T-cell lymphoma (CTCL) patients and pa... | BeFree | 25486484 | Detail |
| 0.007 | antiphospholipid syndrome | NA | GAD | Detail | |
| <0.001 | Polyendocrinopathies, Autoimmune | STAT4 SNP in Japanese patients with SLE and/or APS. | BeFree | 25524556 | Detail |
| <0.001 | Hamman-Rich syndrome | NA | BeFree | Detail | |
| <0.001 | Oral Ulcer | NA | BeFree | Detail | |
| <0.001 | renal fibrosis | NA | BeFree | Detail | |
| <0.001 | allergic asthma | NA | BeFree | Detail | |
| <0.001 | Autoimmune thyroid disease | Association between STAT4 gene polymorphisms and autoimmune thyroid diseases in ... | BeFree | 25019342 | Detail |
| <0.001 | Diabetes, Autoimmune | NA | BeFree | Detail | |
| <0.001 | Lung Diseases, Interstitial | NA | BeFree | Detail | |
| <0.001 | Fibrosis, Liver | STAT4 gene polymorphism has been shown to be associated with the antiviral respo... | BeFree | 25798064 | Detail |
| <0.001 | Hepatitis, Autoimmune | NA | BeFree | Detail | |
| <0.001 | Acquired aplastic anemia | NA | BeFree | Detail | |
| <0.001 | Kaposi's sarcoma classical type | Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Cl... | BeFree | 25492914 | Detail |
| <0.001 | Asthmatic pulmonary eosinophilia | NA | BeFree | Detail | |
| <0.001 | Chronic liver disease | STAT4 activation is detected virtually in the liver of several mouse models of l... | BeFree | 25798064 | Detail |
| <0.001 | lupus erythematosus | NA | BeFree | Detail | |
| <0.001 | Hepatitis B, Chronic | NA | BeFree | Detail | |
| <0.001 | Hepatitis C, Chronic | STAT4 gene polymorphism has been shown to be associated with the antiviral respo... | BeFree | 25798064 | Detail |
| <0.001 | primary sclerosing cholangitis | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | This review summarizes the recent advances on the functional roles of STAT4 and ... | BeFree | 25798064 | Detail |
| <0.001 | Acute hematogenous osteomyelitis | STAT4 downregulation could potentially explain under-expression of genes related... | BeFree | 25076205 | Detail |
| 0.257 | systemic scleroderma | We examined the relationship between five gene polymorphisms [cytotoxic T lympho... | BeFree | 22173230 | Detail |
| <0.001 | Hashimoto Disease | The aim of this study was to explore the association of STAT4 polymorphism with ... | BeFree | 25019342 | Detail |
| <0.001 | breast carcinoma | JAK2 (5 of 11 SNPs), SOCS2 (one of three SNPs), and STAT4 (2 of 20 SNPs) interac... | BeFree | 25104439 | Detail |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| <0.001 | diffuse scleroderma | NA | BeFree | Detail | |
| <0.001 | Inflammatory disorder | We aimed at analyzing previously identified loci associated with SLE or with oth... | BeFree | 25369137 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | Silencing of stat4 gene inhibits cell proliferation and invasion of colorectal c... | BeFree | 25864744 | Detail |
| 0.132 | Sjogren's syndrome | NA | CTD_human,GAD,LHGDN | Detail | |
| <0.001 | Renal Insufficiency | NA | BeFree | Detail | |
| 0.002 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | GAD | Detail | |
| 0.242 | liver carcinoma | High STAT4 expression is a better prognostic indicator in patients with hepatoce... | BeFree,CTD_human,GWASCAT | 24965572 | Detail |
| 0.242 | liver carcinoma | And the role of STAT4 in HBV susceptibility and clearance as well as HCC develop... | BeFree,CTD_human,GWASCAT | 25365208 | Detail |
| 0.242 | liver carcinoma | In summary, our work first reported the association of 14q32.11 (EFCAB11) with H... | BeFree,CTD_human,GWASCAT | 25665738 | Detail |
| 0.242 | liver carcinoma | STAT4 gene polymorphism has been shown to be associated with the antiviral respo... | BeFree,CTD_human,GWASCAT | 25798064 | Detail |
| 0.242 | liver carcinoma | Decreased STAT4 indicates poor prognosis and enhanced cell proliferation in hepa... | BeFree,CTD_human,GWASCAT | 25852285 | Detail |
| <0.001 | Chronic kidney disease stage 5 | NA | BeFree | Detail | |
| 0.005 | Chronic ulcerative colitis | NA | GAD | Detail | |
| 0.080 | Neointima | NA | RGD | Detail | |
| 0.005 | Juvenile arthritis | NA | BeFree,GAD | Detail | |
| <0.001 | juvenile rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.003 | arthritis | NA | BeFree,GAD | Detail | |
| <0.001 | Arthritis, Psoriatic | NA | BeFree | Detail | |
| 0.317 | rheumatoid arthritis | Signal transducer and activator of transcription 4 (STAT4) G>T gene polymorphism... | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 24979672 | Detail |
| 0.093 | asthma | NA | BeFree,GAD,LHGDN,RGD | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| 0.017 | Autoimmune Diseases | The STAT4 gene encodes a transcriptional factor that transmits signals induced b... | BeFree,GAD,LHGDN | 25019342 | Detail |
| 0.017 | Autoimmune Diseases | A considerable number of confirmed associations with RA and other autoimmune dis... | BeFree,GAD,LHGDN | 25189266 | Detail |
| 0.366 | Behcet Syndrome | This study reinforces the notion that CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 a... | BeFree,CTD_human,GAD,GWASCAT,ORPHANET | 26097239 | Detail |
| <0.001 | Malignant neoplasm of breast | JAK2 (5 of 11 SNPs), SOCS2 (one of three SNPs), and STAT4 (2 of 20 SNPs) interac... | BeFree | 25104439 | Detail |
| 0.002 | Bronchiolitis, Viral | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| STAT4 gene polymorphism has been shown to be associated with the antiviral response in chronic hepat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Silencing of stat4 gene inhibits cell proliferation and invasion of colorectal cancer cells. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of this study was to explore the association of STAT4 polymorphism with Graves' disease (GD)... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of HLA-DP/DQ, STAT4 and IL-28B variants with HBV viral clearance in Tibetans and Uygurs ... | DisGeNET | Detail |
| Association of HLA-DP/DQ and STAT4 polymorphisms with HBV infection outcomes and a mini meta-analysi... | DisGeNET | Detail |
| STAT4 genetic polymorphisms association with spontaneous clearance of hepatitis B virus infection. | DisGeNET | Detail |
| The level of STAT4 expression in the HCC liver tissues was significantly lower than that in the non-... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Several genome-wide association studies have revealed that HLA-DP/DQ, STAT4 and IL-28B associated wi... | DisGeNET | Detail |
| Signal transducer and activator of transcription 4 in liver diseases. | DisGeNET | Detail |
| These findings indicate that STAT4 minor allele may be associated with the spontaneous clearance of ... | DisGeNET | Detail |
| SOX6,STAT4 and IL1RL1 were induced in COPD after LPS stimulation. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| STAT4 and IL10 confirm their association with SLE. | DisGeNET | Detail |
| STAT4 SNP in Japanese patients with SLE and/or APS. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Reduced expression of FOXP3 and STAT4 and increased expression of IL-4 relative to CD3 expression le... | DisGeNET | Detail |
| In summary, our results suggest that loss of STAT4 expression and associated switch to Th2 phenotype... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| STAT4 genetic polymorphisms association with spontaneous clearance of hepatitis B virus infection. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Analysis of STAT4 expression in cutaneous T-cell lymphoma (CTCL) patients and patient-derived cell l... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| STAT4 SNP in Japanese patients with SLE and/or APS. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association between STAT4 gene polymorphisms and autoimmune thyroid diseases in a Chinese population... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| STAT4 gene polymorphism has been shown to be associated with the antiviral response in chronic hepat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| STAT4 activation is detected virtually in the liver of several mouse models of liver injury, as well... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| STAT4 gene polymorphism has been shown to be associated with the antiviral response in chronic hepat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This review summarizes the recent advances on the functional roles of STAT4 and its related cytokine... | DisGeNET | Detail |
| STAT4 downregulation could potentially explain under-expression of genes related to adaptive immunit... | DisGeNET | Detail |
| We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated anti... | DisGeNET | Detail |
| The aim of this study was to explore the association of STAT4 polymorphism with Graves' disease (GD)... | DisGeNET | Detail |
| JAK2 (5 of 11 SNPs), SOCS2 (one of three SNPs), and STAT4 (2 of 20 SNPs) interacted with cigarette s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We aimed at analyzing previously identified loci associated with SLE or with other autoimmune and/or... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Silencing of stat4 gene inhibits cell proliferation and invasion of colorectal cancer cells. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| High STAT4 expression is a better prognostic indicator in patients with hepatocellular carcinoma aft... | DisGeNET | Detail |
| And the role of STAT4 in HBV susceptibility and clearance as well as HCC development is still conten... | DisGeNET | Detail |
| In summary, our work first reported the association of 14q32.11 (EFCAB11) with HCC in Chinese Han po... | DisGeNET | Detail |
| STAT4 gene polymorphism has been shown to be associated with the antiviral response in chronic hepat... | DisGeNET | Detail |
| Decreased STAT4 indicates poor prognosis and enhanced cell proliferation in hepatocellular carcinoma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Signal transducer and activator of transcription 4 (STAT4) G>T gene polymorphism in Egyptian cases w... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The STAT4 gene encodes a transcriptional factor that transmits signals induced by several key cytoki... | DisGeNET | Detail |
| A considerable number of confirmed associations with RA and other autoimmune disease susceptibility ... | DisGeNET | Detail |
| This study reinforces the notion that CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 are bona fide suscept... | DisGeNET | Detail |
| JAK2 (5 of 11 SNPs), SOCS2 (one of three SNPs), and STAT4 (2 of 20 SNPs) interacted with cigarette s... | DisGeNET | Detail |
| NA | 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
- rs386609373 dbSNP
- Genome
- hg19
- Position
- chr2:191,894,302-192,038,172
- Variant Type
- snv
Genome browser