Variant report
| Variant | esv3529462 |
|---|---|
| Chromosome Location | chr14:47433994-47434537 |
| 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 | rs539669967 | chr14:47434006-47434007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs547919719 | chr14:47434019-47434020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs190942533 | chr14:47434066-47434067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs78276346 | chr14:47434070-47434071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs181981105 | chr14:47434095-47434096 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs549772856 | chr14:47434120-47434121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs368284495 | chr14:47434123-47434124 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs185166164 | chr14:47434166-47434167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs149583482 | chr14:47434174-47434175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs142657238 | chr14:47434185-47434186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs191055156 | chr14:47434188-47434189 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs113584808 | chr14:47434208-47434209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs570234672 | chr14:47434221-47434222 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs535065186 | chr14:47434263-47434264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs535770639 | chr14:47434324-47434325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs371830263 | chr14:47434368-47434369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs554112428 | chr14:47434373-47434374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs567729198 | chr14:47434421-47434422 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs113760768 | chr14:47434445-47434446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs575217602 | chr14:47434476-47434477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs140233463 | chr14:47434517-47434518 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:54)
| 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 |
| 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 | 19907438 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:47430000-47437000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr14:47433200-47434000 | Enhancers | Liver | Liver |
