Variant report
| Variant | esv3445562 |
|---|---|
| Chromosome Location | chr14:64277559-64278038 |
| 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 | rs562175581 | chr14:64277573-64277574 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530984483 | chr14:64277592-64277593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs185858054 | chr14:64277699-64277700 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs12436556 | chr14:64277701-64277702 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11158510 | chr14:64277714-64277715 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs546326074 | chr14:64277754-64277755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs35127249 | chr14:64277755-64277756 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs113353479 | chr14:64277795-64277796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs190913108 | chr14:64277804-64277805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs549034675 | chr14:64277831-64277832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs569088269 | chr14:64277832-64277833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs537996005 | chr14:64277840-64277841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs558084425 | chr14:64277843-64277844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs182622472 | chr14:64277855-64277856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs534083134 | chr14:64277920-64277921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs12892672 | chr14:64277954-64277955 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs111386748 | chr14:64277991-64277992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs573170777 | chr14:64278006-64278007 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| 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 |
| 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 |
| 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 |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Leukemia | 18688285 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Autism | 22543975 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:64276600-64278000 | Weak transcription | HepG2 | liver |
| 2 | chr14:64276800-64278000 | Weak transcription | Placenta | Placenta |
| 3 | chr14:64278000-64278600 | Enhancers | HepG2 | liver |
| 4 | chr14:64278000-64279200 | Enhancers | Placenta | Placenta |
