Variant report
| Variant | esv3345416 |
|---|---|
| Chromosome Location | chr8:3094320-3096443 |
| 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 | rs144510110 | chr8:3094427-3094428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs73660622 | chr8:3094471-3094472 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs186818926 | chr8:3094501-3094502 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs9650504 | chr8:3094508-3094509 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556442574 | chr8:3094513-3094514 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs113864755 | chr8:3094514-3094515 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73660623 | chr8:3094530-3094531 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs558598364 | chr8:3094535-3094536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572017467 | chr8:3094551-3094552 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs571613838 | chr8:3094555-3094556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs112206717 | chr8:3094557-3094558 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs142535599 | chr8:3094589-3094590 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs542911548 | chr8:3094596-3094597 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs73660624 | chr8:3094616-3094617 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs191603801 | chr8:3094627-3094628 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs531775970 | chr8:3094629-3094630 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs115316473 | chr8:3094640-3094641 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs538969583 | chr8:3094651-3094652 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs527752145 | chr8:3094654-3094655 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs547770880 | chr8:3094676-3094677 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs140620441 | chr8:3094680-3094681 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs536589663 | chr8:3094682-3094683 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs144482001 | chr8:3094686-3094687 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs183856119 | chr8:3094706-3094707 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs147830427 | chr8:3094717-3094718 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs7013443 | chr8:3094728-3094729 | Weak transcription Bivalent Enhancer | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs138356222 | chr8:3094754-3094755 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs572115629 | chr8:3094755-3094756 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs534375002 | chr8:3094758-3094759 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs554597229 | chr8:3094761-3094762 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs574086158 | chr8:3094785-3094786 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs542950053 | chr8:3094790-3094791 | Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs141360106 | chr8:3094809-3094810 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs113400885 | chr8:3094813-3094814 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs145784248 | chr8:3094815-3094816 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs186974693 | chr8:3094819-3094820 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs148954900 | chr8:3094831-3094832 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs541154730 | chr8:3094862-3094863 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs561299478 | chr8:3094886-3094887 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs530093618 | chr8:3094922-3094923 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs550169221 | chr8:3094928-3094929 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs569981289 | chr8:3094956-3094957 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs532265266 | chr8:3094990-3094991 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs143658678 | chr8:3095004-3095005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs565734462 | chr8:3095006-3095007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs534757815 | chr8:3095013-3095014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs551655370 | chr8:3095045-3095046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs201494657 | chr8:3095086-3095087 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs138179702 | chr8:3095090-3095091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs202238644 | chr8:3095097-3095098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:124)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Myelofibrosis | 22110671 | 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 |
| Acute myeloid leukemia | 20729466 | CNVD |
| Ductal carcinoma | 22052326 | 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 |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Congenital diaphragmatic hernia | 21064195 | CNVD |
| Ovarian cancer | 22355333 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Prostate cancer | 17217626 | CNVD |
| Developmental delay | 19128483 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Seminomas | 18059402 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Schizophrenia | 19805367 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:3094400-3094600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr8:3094400-3094600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr8:3094600-3094800 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr8:3094600-3096600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr8:3094800-3095000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 6 | chr8:3095000-3096200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 7 | chr8:3095200-3096200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 8 | chr8:3095800-3096000 | Bivalent Enhancer | HUES64 Cell Line | embryonic stem cell |
| 9 | chr8:3096200-3096600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 10 | chr8:3096200-3096600 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
| 11 | chr8:3096200-3097200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
