Variant report
| Variant | nsv826936 |
|---|---|
| Chromosome Location | chr14:43726899-43731406 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs184330301 | chr14:43727828-43727829 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs62001180 | chr14:43727833-43727834 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs566377633 | chr14:43727852-43727853 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs539615910 | chr14:43727876-43727877 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557931621 | chr14:43727877-43727878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs187547030 | chr14:43727945-43727946 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs373761439 | chr14:43727989-43727990 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs150764026 | chr14:43727998-43727999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs138102040 | chr14:43727999-43728000 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs188353758 | chr14:43728034-43728035 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs555323394 | chr14:43728046-43728047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs76580251 | chr14:43728069-43728070 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs541433479 | chr14:43728112-43728113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs560161050 | chr14:43728113-43728114 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs112701204 | chr14:43728115-43728116 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs55664410 | chr14:43728116-43728117 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs527588821 | chr14:43728163-43728164 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs17114039 | chr14:43728183-43728184 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| 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 |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | 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 |
| Breast cancer | 21364760 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Melanoma | 17363583 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:43727800-43728200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
