Variant report
| Variant | nsv968520 |
|---|---|
| Chromosome Location | chr8:90139524-90145876 |
| 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 | rs28679785 | chr8:90140015-90140016 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs577730527 | chr8:90140019-90140020 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs28621916 | chr8:90140052-90140053 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs554483700 | chr8:90140065-90140066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs16891536 | chr8:90140090-90140091 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs1733959 | chr8:90140113-90140114 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs28776794 | chr8:90140116-90140117 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs561368361 | chr8:90140134-90140135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12679031 | chr8:90140154-90140155 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540586567 | chr8:90140207-90140208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs144331345 | chr8:90140215-90140216 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs543561905 | chr8:90140223-90140224 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs545760302 | chr8:90140228-90140229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs529171678 | chr8:90140258-90140259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs532390696 | chr8:90140290-90140291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs76142108 | chr8:90140386-90140387 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs10104256 | chr8:90140457-90140458 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs550977421 | chr8:90140458-90140459 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs550827473 | chr8:90140474-90140475 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs562662918 | chr8:90140475-90140476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs567360131 | chr8:90140504-90140505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs537915220 | chr8:90140516-90140517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs73692730 | chr8:90140528-90140529 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 24 | rs571394589 | chr8:90140529-90140530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs538622696 | chr8:90140561-90140562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs553844468 | chr8:90140566-90140567 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs572774767 | chr8:90140577-90140578 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs551388194 | chr8:90140601-90140602 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs536546495 | chr8:90140616-90140617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs186871407 | chr8:90140689-90140690 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs558444335 | chr8:90140693-90140694 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs576576599 | chr8:90140710-90140711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs539840346 | chr8:90140740-90140741 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs191618110 | chr8:90140769-90140770 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs548893101 | chr8:90140805-90140806 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs182707866 | chr8:90140836-90140837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs566717191 | chr8:90140906-90140907 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs551804197 | chr8:90140909-90140910 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs34535146 | chr8:90140967-90140968 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs78275179 | chr8:90140993-90140994 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs188335816 | chr8:90141025-90141026 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs549025238 | chr8:90141027-90141028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs193201070 | chr8:90141042-90141043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs75677347 | chr8:90141051-90141052 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs185467196 | chr8:90141079-90141080 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs571356838 | chr8:90141102-90141103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs532294124 | chr8:90141115-90141116 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs114714388 | chr8:90141118-90141119 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs190775781 | chr8:90141134-90141135 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs565687572 | chr8:90141140-90141141 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:106)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | 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 |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| abnormal development | 18461090 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Epilepsy | 20502679 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| head and neck squamous cell carcinoma | 19451471 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:90140000-90141800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 2 | chr8:90140200-90141200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chr8:90140400-90141200 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 4 | chr8:90140400-90141400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr8:90140800-90141000 | Enhancers | H9 Cell Line | embryonic stem cell |
| 6 | chr8:90140800-90141200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 7 | chr8:90140800-90141200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 8 | chr8:90140800-90141800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 9 | chr8:90141000-90141400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 10 | chr8:90141600-90141800 | Enhancers | H9 Cell Line | embryonic stem cell |
