Variant report
| Variant | esv1842958 |
|---|---|
| Chromosome Location | chr8:5591870-5605264 |
| 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 | rs151183899 | chr8:5591880-5591881 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs80059538 | chr8:5591885-5591886 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs569297708 | chr8:5591888-5591889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs530096882 | chr8:5591893-5591894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs859821 | chr8:5591913-5591914 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566724223 | chr8:5591929-5591930 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs534102011 | chr8:5591931-5591932 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs558752712 | chr8:5591949-5591950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs570610136 | chr8:5591979-5591980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537673174 | chr8:5591982-5591983 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs556222613 | chr8:5591998-5591999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs859805 | chr8:5595400-5595401 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs140223375 | chr8:5595417-5595418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs576059066 | chr8:5595419-5595420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs186838468 | chr8:5595431-5595432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs561690054 | chr8:5595433-5595434 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs573498494 | chr8:5595467-5595468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs143523087 | chr8:5595471-5595472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs148005175 | chr8:5595475-5595476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs2527119 | chr8:5595488-5595489 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs75958175 | chr8:5595511-5595512 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs190294109 | chr8:5595515-5595516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs563271341 | chr8:5595517-5595518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs375488146 | chr8:5595528-5595529 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs2725722 | chr8:5595543-5595544 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs550484532 | chr8:5595547-5595548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs140757269 | chr8:5595560-5595561 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs554746848 | chr8:5595574-5595575 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs374708315 | chr8:5595582-5595583 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs182860664 | chr8:5595585-5595586 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs116179433 | chr8:5595594-5595595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs566003373 | chr8:5595600-5595601 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs539903917 | chr8:5595615-5595616 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs859804 | chr8:5595619-5595620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs376188913 | chr8:5595628-5595629 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs77631555 | chr8:5595629-5595630 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs62487574 | chr8:5595668-5595669 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs188507958 | chr8:5595674-5595675 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs78729371 | chr8:5595681-5595682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs573607929 | chr8:5595682-5595683 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs540835526 | chr8:5595724-5595725 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs11992213 | chr8:5595728-5595729 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs577789365 | chr8:5595731-5595732 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs79500670 | chr8:5595738-5595739 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs77523122 | chr8:5595743-5595744 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs530515448 | chr8:5595748-5595749 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs193230851 | chr8:5595770-5595771 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs562327122 | chr8:5595779-5595780 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs2527118 | chr8:5595791-5595792 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 50 | rs11785609 | chr8:5595798-5595799 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:127)
| 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 |
| Breast cancer | 21785460 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Acute myeloid leukemia | 20729466 | 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 |
| 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 |
| Breast cancer | 21364760 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| Cancer | 20164919 | CNVD |
| Non-syndromic sensorineural hearing loss | 17289997 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Tetralogy of Fallot | 22912587 | CNVD |
| Type 2 diabetes | 21526130 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Medulloblastoma | 21163964 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:5590800-5592000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr8:5595400-5596000 | Enhancers | Dnd41 | blood |
| 3 | chr8:5596000-5599000 | Weak transcription | Dnd41 | blood |
| 4 | chr8:5598800-5599600 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 5 | chr8:5599000-5599400 | Enhancers | Esophagus | oesophagus |
| 6 | chr8:5599000-5600600 | Enhancers | Dnd41 | blood |
| 7 | chr8:5602400-5603000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
