Variant report
| Variant | nsv889959 |
|---|---|
| Chromosome Location | chr8:4365381-4391578 |
| 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 | rs1864516 | chr8:4365381-4365382 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs545637284 | chr8:4365384-4365385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs564222054 | chr8:4365395-4365396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs186093543 | chr8:4365397-4365398 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs190245642 | chr8:4365417-4365418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs370496776 | chr8:4365430-4365431 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs530258837 | chr8:4365446-4365447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs529652029 | chr8:4365467-4365468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs1864515 | chr8:4365505-4365506 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs566198622 | chr8:4365518-4365519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs540035834 | chr8:4365524-4365525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs182521044 | chr8:4365527-4365528 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs376883904 | chr8:4365530-4365531 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs117337695 | chr8:4365550-4365551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs555376738 | chr8:4365578-4365579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs144822461 | chr8:4365583-4365584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs3991007 | chr8:4365611-4365612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs5889042 | chr8:4365618-4365619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs534663830 | chr8:4365625-4365626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs1217685 | chr8:4365626-4365627 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs376251740 | chr8:4365666-4365667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs2406477 | chr8:4365670-4365671 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs202007270 | chr8:4365680-4365681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs57997577 | chr8:4365681-4365682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs371154140 | chr8:4365682-4365683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs113152818 | chr8:4365683-4365684 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs71207096 | chr8:4365689-4365690 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs398006970 | chr8:4365695-4365696 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs116696859 | chr8:4365713-4365714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs576237092 | chr8:4365721-4365722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs34031200 | chr8:4365760-4365761 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs563162741 | chr8:4365805-4365806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs543532153 | chr8:4365844-4365845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs561715342 | chr8:4365845-4365846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs114071347 | chr8:4365855-4365856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs190663998 | chr8:4365862-4365863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs560013438 | chr8:4365863-4365864 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs533432188 | chr8:4365864-4365865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs551979703 | chr8:4365879-4365880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs569899749 | chr8:4365885-4365886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs537190138 | chr8:4365908-4365909 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs370661302 | chr8:4365925-4365926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs138680679 | chr8:4365938-4365939 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs567382057 | chr8:4365953-4365954 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs141802657 | chr8:4366011-4366012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs376226537 | chr8:4366020-4366021 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs535032580 | chr8:4366031-4366032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs553064201 | chr8:4366046-4366047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs572330804 | chr8:4366085-4366086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs182738314 | chr8:4366095-4366096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:126)
| 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 |
| 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 |
| 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 |
| Colorectal cancer | 16774939 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Colorectal cancer | 22014273 | 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 |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Renal cell carcinoma | 21215367 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:4364800-4365400 | Enhancers | Fetal Heart | heart |
| 2 | chr8:4365400-4366400 | Weak transcription | Fetal Heart | heart |
| 3 | chr8:4366400-4369000 | Enhancers | Fetal Heart | heart |
| 4 | chr8:4367000-4367200 | Enhancers | Right Atrium | heart |
| 5 | chr8:4367200-4374000 | Weak transcription | Right Atrium | heart |
| 6 | chr8:4369000-4369400 | Enhancers | Fetal Lung | lung |
| 7 | chr8:4369000-4369600 | Flanking Active TSS | Fetal Heart | heart |
| 8 | chr8:4369400-4374600 | Weak transcription | Fetal Lung | lung |
| 9 | chr8:4369600-4370600 | Active TSS | Fetal Heart | heart |
| 10 | chr8:4370600-4370800 | Weak transcription | Fetal Heart | heart |
| 11 | chr8:4370800-4375600 | Enhancers | Fetal Heart | heart |
| 12 | chr8:4372000-4372200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 13 | chr8:4372200-4373800 | Enhancers | Brain Cingulate Gyrus | brain |
| 14 | chr8:4372200-4375400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 15 | chr8:4372400-4373000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 16 | chr8:4372400-4373000 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
| 17 | chr8:4372400-4373600 | Enhancers | Brain Anterior Caudate | brain |
| 18 | chr8:4372600-4373600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 19 | chr8:4372800-4374200 | Enhancers | Fetal Brain Male | brain |
| 20 | chr8:4373200-4373800 | Enhancers | Brain Hippocampus Middle | brain |
| 21 | chr8:4373200-4374200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 22 | chr8:4373200-4374200 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
| 23 | chr8:4374000-4374200 | Genic enhancers | Right Atrium | heart |
| 24 | chr8:4374200-4374600 | Weak transcription | Right Atrium | heart |
| 25 | chr8:4374200-4377400 | Weak transcription | Fetal Brain Male | brain |
| 26 | chr8:4374600-4375200 | Enhancers | Fetal Lung | lung |
| 27 | chr8:4375400-4375600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 28 | chr8:4375600-4384400 | Weak transcription | Fetal Heart | heart |
| 29 | chr8:4377400-4378000 | Enhancers | Fetal Brain Male | brain |
| 30 | chr8:4384400-4386200 | Enhancers | Fetal Heart | heart |
