Variant report
| Variant | nsv889897 |
|---|---|
| Chromosome Location | chr8:3169275-3183640 |
| 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 | rs997481 | chr8:3169275-3169276 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs536105410 | chr8:3169278-3169279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs554171256 | chr8:3169280-3169281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs572989389 | chr8:3169295-3169296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs7843299 | chr8:3169299-3169300 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs17079887 | chr8:3169300-3169301 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs143292344 | chr8:3169303-3169304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs377587098 | chr8:3169304-3169305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs76206030 | chr8:3169311-3169312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs553809770 | chr8:3169335-3169336 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs200681735 | chr8:3169336-3169337 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs576991012 | chr8:3169343-3169344 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs555359562 | chr8:3169345-3169346 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs7843433 | chr8:3169351-3169352 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs562640700 | chr8:3169352-3169353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs17079888 | chr8:3169388-3169389 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs62504441 | chr8:3169415-3169416 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs192203140 | chr8:3169439-3169440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs140047085 | chr8:3169446-3169447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs552128964 | chr8:3169453-3169454 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs533401295 | chr8:3169454-3169455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs570531054 | chr8:3169456-3169457 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs542906996 | chr8:3169484-3169485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs531658717 | chr8:3169488-3169489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs369842169 | chr8:3169492-3169493 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs7838925 | chr8:3169506-3169507 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 27 | rs556605608 | chr8:3169507-3169508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs568592564 | chr8:3169543-3169544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs1910376 | chr8:3169567-3169568 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs145139931 | chr8:3169571-3169572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs7820348 | chr8:3169587-3169588 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs117214700 | chr8:3169623-3169624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs558559814 | chr8:3169624-3169625 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs370565863 | chr8:3169629-3169630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs576932688 | chr8:3169634-3169635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs537902736 | chr8:3169657-3169658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs565364626 | chr8:3169681-3169682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs1910377 | chr8:3169686-3169687 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs202089746 | chr8:3169687-3169688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs558208212 | chr8:3169726-3169727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs184821077 | chr8:3169727-3169728 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs541558498 | chr8:3169744-3169745 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs76639700 | chr8:3169773-3169774 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs561293968 | chr8:3169774-3169775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs188040961 | chr8:3169790-3169791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs550595323 | chr8:3169797-3169798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs545705072 | chr8:3169801-3169802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs1910378 | chr8:3169808-3169809 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 49 | rs531599918 | chr8:3169818-3169819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs113922014 | chr8:3169820-3169821 | 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 |
| 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 |
| Schizophrenia | 23813976 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:3168000-3172400 | Weak transcription | Fetal Kidney | kidney |
| 2 | chr8:3172400-3172600 | Enhancers | Fetal Kidney | kidney |
| 3 | chr8:3172600-3173000 | Weak transcription | Fetal Kidney | kidney |
| 4 | chr8:3176400-3176600 | Enhancers | Fetal Kidney | kidney |
| 5 | chr8:3178600-3179200 | Enhancers | Fetal Brain Male | brain |
| 6 | chr8:3179200-3180200 | Weak transcription | Fetal Brain Male | brain |
| 7 | chr8:3180000-3180400 | Enhancers | Lung | lung |
| 8 | chr8:3180000-3182000 | Enhancers | Primary B cells from peripheral blood | blood |
| 9 | chr8:3180200-3180400 | Enhancers | Fetal Brain Male | brain |
