Variant report
| Variant | esv3478450 |
|---|---|
| Chromosome Location | chr8:1128545-1133143 |
| 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 | rs115311290 | chr8:1128548-1128549 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs564276338 | chr8:1128549-1128550 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs1562923 | chr8:1128558-1128559 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs566251270 | chr8:1128563-1128564 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529011819 | chr8:1128564-1128565 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs191469490 | chr8:1128581-1128582 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs567998708 | chr8:1128584-1128585 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs372123389 | chr8:1128592-1128593 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs568881665 | chr8:1128611-1128612 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537398548 | chr8:1128620-1128621 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs75133087 | chr8:1128645-1128646 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs189677307 | chr8:1128664-1128665 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs372424912 | chr8:1128683-1128684 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs554436668 | chr8:1128686-1128687 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574272359 | chr8:1128715-1128716 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs138662809 | chr8:1128738-1128739 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs149319381 | chr8:1128740-1128741 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs181668699 | chr8:1128742-1128743 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs552134532 | chr8:1128748-1128749 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs144254505 | chr8:1128762-1128763 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs564053659 | chr8:1128768-1128769 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs185316001 | chr8:1128807-1128808 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs577486254 | chr8:1128809-1128810 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs540113830 | chr8:1128826-1128827 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs190612406 | chr8:1128830-1128831 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs73534813 | chr8:1128838-1128839 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs549066012 | chr8:1128849-1128850 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs562404624 | chr8:1128861-1128862 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs531353797 | chr8:1128886-1128887 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs551369492 | chr8:1128888-1128889 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs568175866 | chr8:1128892-1128893 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs142948931 | chr8:1128894-1128895 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs548102777 | chr8:1128902-1128903 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs116629759 | chr8:1128904-1128905 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs536397430 | chr8:1128917-1128918 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs528379496 | chr8:1128927-1128928 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs17815633 | chr8:1128928-1128929 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs182001872 | chr8:1128944-1128945 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs186283967 | chr8:1128950-1128951 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs567739217 | chr8:1128952-1128953 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs572092059 | chr8:1128953-1128954 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs376637684 | chr8:1128954-1128955 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs7014435 | chr8:1128957-1128958 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 44 | rs373055293 | chr8:1128960-1128961 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs559969869 | chr8:1128965-1128966 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs377063297 | chr8:1128970-1128971 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs573790448 | chr8:1128972-1128973 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs77420032 | chr8:1128982-1128983 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs369034799 | chr8:1128992-1128993 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs147485822 | chr8:1128993-1128994 | Weak transcription 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 | chr8:1124200-1129200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr8:1124800-1132400 | Weak transcription | Fetal Kidney | kidney |
| 3 | chr8:1128400-1130800 | Enhancers | Fetal Brain Male | brain |
| 4 | chr8:1128800-1129400 | Enhancers | Fetal Brain Female | brain |
| 5 | chr8:1129200-1129400 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 6 | chr8:1129200-1129400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 7 | chr8:1129400-1129600 | Genic enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 8 | chr8:1129400-1133200 | Weak transcription | Fetal Brain Female | brain |
| 9 | chr8:1129600-1130400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 10 | chr8:1130400-1130800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 11 | chr8:1130600-1130800 | Enhancers | Gastric | stomach |
| 12 | chr8:1130800-1131800 | Weak transcription | Fetal Brain Male | brain |
| 13 | chr8:1130800-1132600 | Weak transcription | Gastric | stomach |
| 14 | chr8:1130800-1134800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 15 | chr8:1131800-1132000 | Enhancers | Fetal Brain Male | brain |
| 16 | chr8:1132000-1132400 | Weak transcription | Fetal Brain Male | brain |
| 17 | chr8:1132400-1132600 | Enhancers | Fetal Kidney | kidney |
| 18 | chr8:1132400-1134200 | Enhancers | Fetal Brain Male | brain |
| 19 | chr8:1132600-1133800 | Enhancers | Gastric | stomach |
