Variant report
| Variant | esv3368074 |
|---|---|
| Chromosome Location | chr14:63468441-63468936 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs545003950 | chr14:63468485-63468486 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs558238889 | chr14:63468558-63468559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs148182528 | chr14:63468576-63468577 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs561553987 | chr14:63468647-63468648 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs571183836 | chr14:63468676-63468677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs140095959 | chr14:63468709-63468710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs544008400 | chr14:63468718-63468719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs563822910 | chr14:63468723-63468724 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs532474736 | chr14:63468757-63468758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs145292511 | chr14:63468775-63468776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs139009007 | chr14:63468778-63468779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs113380942 | chr14:63468798-63468799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs112114541 | chr14:63468833-63468834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs9652353 | chr14:63468844-63468845 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs373746997 | chr14:63468852-63468853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs190640888 | chr14:63468881-63468882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs140313983 | chr14:63468891-63468892 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs9652354 | chr14:63468896-63468897 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs146357654 | chr14:63468933-63468934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs10146138 | chr14:63468934-63468935 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:61)
| 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 |
| Myelofibrosis | 22110671 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Leukemia | 18688285 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 22737080 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| abnormal development | 18461090 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:63466400-63476800 | Weak transcription | Hela-S3 | cervix |
