Variant report
| Variant | esv1803985 |
|---|---|
| Chromosome Location | chr8:1171532-1178458 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs533935963 | chr8:1172400-1172401 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs137868617 | chr8:1172406-1172407 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs117867494 | chr8:1172408-1172409 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs542278479 | chr8:1172413-1172414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149035559 | chr8:1172418-1172419 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs143159350 | chr8:1172481-1172482 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs78449251 | chr8:1172489-1172490 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs148271912 | chr8:1172492-1172493 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs79068623 | chr8:1172514-1172515 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs188180883 | chr8:1172522-1172523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs561243151 | chr8:1172526-1172527 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs13255577 | chr8:1172555-1172556 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs371914220 | chr8:1172558-1172559 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs569675064 | chr8:1172559-1172560 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs13263143 | chr8:1172589-1172590 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs551258805 | chr8:1172592-1172593 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs571453832 | chr8:1172609-1172610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs181133709 | chr8:1172612-1172613 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs533762889 | chr8:1172627-1172628 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs553902606 | chr8:1172638-1172639 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs75705452 | chr8:1172639-1172640 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs117250416 | chr8:1172642-1172643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs372759966 | chr8:1172643-1172644 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs73527719 | chr8:1172680-1172681 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs59485027 | chr8:1172704-1172705 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs146237007 | chr8:1172764-1172765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs138049705 | chr8:1172779-1172780 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs572668304 | chr8:1172788-1172789 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs371250689 | chr8:1172793-1172794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs140569374 | chr8:1172806-1172807 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs77185680 | chr8:1172826-1172827 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs373408281 | chr8:1172847-1172848 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs78997553 | chr8:1172859-1172860 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs530148010 | chr8:1172864-1172865 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs543503431 | chr8:1172871-1172872 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs563389785 | chr8:1172890-1172891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs78836519 | chr8:1172900-1172901 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs552118564 | chr8:1172905-1172906 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs571472704 | chr8:1172952-1172953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs34133561 | chr8:1172954-1172955 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs76986284 | chr8:1172956-1172957 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs542403459 | chr8:1172970-1172971 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs56283612 | chr8:1172988-1172989 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs142006349 | chr8:1173005-1173006 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs150854367 | chr8:1173022-1173023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs139229872 | chr8:1173061-1173062 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs538657279 | chr8:1173078-1173079 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs186436056 | chr8:1173106-1173107 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs555016136 | chr8:1173107-1173108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs572655437 | chr8:1173113-1173114 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:114)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Congenital diaphragmatic hernia | 21341218 | CNVD |
| Cancer | 18840272 | CNVD |
| Pilocytic astrocytoma | 18622384 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| abnormal development | 18461090 | CNVD |
| Crohn''s disease | 19220326 | CNVD |
| Psoriasis | 19220326 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Prostate cancer | 18515986 | CNVD |
| Chronic obstructive pulmonary disease | 20378733 | CNVD |
| Autism | 18414403 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Cervical cancer | 17311676 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Schizophrenia | 20877625 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Heart disease | 21282601 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 22429812 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| Breast cancer | 20940404 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| 8p-syndrome | 17576883 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21509527 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 20531469 | CNVD |
| Breast cancer | 20932292 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:1172400-1173400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr8:1172600-1173000 | Enhancers | Brain Anterior Caudate | brain |
