Variant report
| Variant | nsv963968 |
|---|---|
| Chromosome Location | chr2:185105946-185116755 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:185115001..185116702-chr2:185121013..185123546,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs530316760 | chr2:185116246-185116247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs138339884 | chr2:185116253-185116254 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs530951201 | chr2:185116271-185116272 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs557203071 | chr2:185116280-185116281 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs549150894 | chr2:185116317-185116318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569070889 | chr2:185116342-185116343 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs149636352 | chr2:185116343-185116344 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs78030104 | chr2:185116351-185116352 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs1378672 | chr2:185116373-185116374 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs540320380 | chr2:185116377-185116378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs555627537 | chr2:185116397-185116398 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs143460263 | chr2:185116404-185116405 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558703665 | chr2:185116417-185116418 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs182368743 | chr2:185116426-185116427 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs563169528 | chr2:185116437-185116438 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs533672839 | chr2:185116471-185116472 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs545777105 | chr2:185116479-185116480 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs564064200 | chr2:185116496-185116497 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs528142006 | chr2:185116530-185116531 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs137903848 | chr2:185116535-185116536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs186604160 | chr2:185116542-185116543 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs371359675 | chr2:185116555-185116556 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs529049274 | chr2:185116574-185116575 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs550522598 | chr2:185116614-185116615 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs73048983 | chr2:185116724-185116725 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs539356471 | chr2:185116725-185116726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 18522746 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Autism | 19329560 | CNVD |
| Autism | 22543975 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:185116200-185116600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr2:185116200-185117000 | Enhancers | Adipose Nuclei | Adipose |
