Variant report
| Variant | nsv520049 |
|---|---|
| Chromosome Location | chr10:37250388-37271645 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs529696017 | chr10:37269620-37269621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs138244566 | chr10:37269644-37269645 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs117875597 | chr10:37269645-37269646 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs532192777 | chr10:37269649-37269650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs118109101 | chr10:37269694-37269695 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs181268333 | chr10:37269756-37269757 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs149577114 | chr10:37269757-37269758 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs534934522 | chr10:37269759-37269760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs554166839 | chr10:37269760-37269761 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs567665834 | chr10:37269785-37269786 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs185343059 | chr10:37269786-37269787 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs556685270 | chr10:37269811-37269812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs576642045 | chr10:37269841-37269842 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs188494379 | chr10:37269877-37269878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs545247554 | chr10:37269914-37269915 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs12253052 | chr10:37269934-37269935 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs180956851 | chr10:37269935-37269936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs111566219 | chr10:37269938-37269939 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs12253061 | chr10:37269958-37269959 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs529634600 | chr10:37269964-37269965 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs12253224 | chr10:37269990-37269991 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:39)
| Disease | PMID | Source |
|---|---|---|
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Oral cancer | 21386901 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Behavioral abnormalities | 21522184 | CNVD |
| Dysmorphic features | 21522184 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Bethlem myopathy | 20302629 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:37269600-37270000 | Enhancers | Placenta | Placenta |
