Variant report
| Variant | esv2382609 |
|---|---|
| Chromosome Location | chr8:1185357-1186071 |
| 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 |
Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs73186545 | chr8:1185361-1185362 | Enhancers ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs140660433 | chr8:1185368-1185369 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs144400197 | chr8:1185383-1185384 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs190679309 | chr8:1185386-1185387 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs535448801 | chr8:1185387-1185388 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs555053579 | chr8:1185388-1185389 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs375872501 | chr8:1185398-1185399 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs151205249 | chr8:1185405-1185406 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs62486952 | chr8:1185417-1185418 | Enhancers ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs373241285 | chr8:1185424-1185425 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs538535286 | chr8:1185438-1185439 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs372966994 | chr8:1185441-1185442 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558429117 | chr8:1185442-1185443 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs201312378 | chr8:1185455-1185456 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs181820608 | chr8:1185457-1185458 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs578223295 | chr8:1185462-1185463 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs186507704 | chr8:1185463-1185464 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs553703113 | chr8:1185470-1185471 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs540423030 | chr8:1185476-1185477 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs574976288 | chr8:1185508-1185509 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs199799245 | chr8:1185529-1185530 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs189770157 | chr8:1185534-1185535 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs560655450 | chr8:1185537-1185538 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs373820251 | chr8:1185538-1185539 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs372051414 | chr8:1185544-1185545 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs574013144 | chr8:1185547-1185548 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs543040430 | chr8:1185551-1185552 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs62486953 | chr8:1185552-1185553 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs145690258 | chr8:1185555-1185556 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs374933928 | chr8:1185559-1185560 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs80115697 | chr8:1185562-1185563 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs148115114 | chr8:1185572-1185573 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs79201470 | chr8:1185576-1185577 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs76283171 | chr8:1185577-1185578 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs62486954 | chr8:1185580-1185581 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs62486955 | chr8:1185587-1185588 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs564173911 | chr8:1185594-1185595 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs528959635 | chr8:1185598-1185599 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:113)
| 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 |
| 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 | chr8:1184000-1185600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr8:1185000-1185600 | ZNF genes & repeats | Pancreas | Pancrea |
