Variant report
| Variant | nsv976822 |
|---|---|
| Chromosome Location | chr14:46991197-46997862 |
| 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 |
Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs575628769 | chr14:46996853-46996854 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs367852906 | chr14:46996862-46996863 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542819108 | chr14:46996877-46996878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs561168560 | chr14:46996883-46996884 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs528163051 | chr14:46996970-46996971 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs557393146 | chr14:46996974-46996975 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548870205 | chr14:46996988-46996989 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs186556755 | chr14:46996992-46996993 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs539624819 | chr14:46996996-46996997 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs10134558 | chr14:46997073-46997074 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs550180273 | chr14:46997099-46997100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs569986901 | chr14:46997121-46997122 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558897655 | chr14:46997155-46997156 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs537376877 | chr14:46997203-46997204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs549296458 | chr14:46997326-46997327 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs567893837 | chr14:46997499-46997500 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs543340965 | chr14:46997555-46997556 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs534908454 | chr14:46997593-46997594 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs10134890 | chr14:46997620-46997621 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 20 | rs553752047 | chr14:46997628-46997629 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs542123344 | chr14:46997633-46997634 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs145373771 | chr14:46997640-46997641 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs368715698 | chr14:46997706-46997707 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs149179920 | chr14:46997707-46997708 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs575591990 | chr14:46997764-46997765 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 19907438 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:46996800-46997400 | Enhancers | Liver | Liver |
| 2 | chr14:46997400-46997800 | Active TSS | Liver | Liver |
