Variant report
| Variant | esv3362322 |
|---|---|
| Chromosome Location | chr14:63119263-63119634 |
| 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 | rs113970035 | chr14:63119283-63119284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs115570164 | chr14:63119291-63119292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs143309853 | chr14:63119292-63119293 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs139135621 | chr14:63119309-63119310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529156794 | chr14:63119312-63119313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs143063273 | chr14:63119361-63119362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs147408121 | chr14:63119369-63119370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs538029832 | chr14:63119399-63119400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs551314885 | chr14:63119416-63119417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs139629615 | chr14:63119428-63119429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs533682169 | chr14:63119433-63119434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs553304910 | chr14:63119454-63119455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs1953252 | chr14:63119506-63119507 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs541377534 | chr14:63119560-63119561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs372603323 | chr14:63119568-63119569 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs535171692 | chr14:63119616-63119617 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs187948165 | chr14:63119631-63119632 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs141800180 | chr14:63119633-63119634 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| Cancer | 20164919 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:63117000-63123800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr14:63119600-63120000 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 3 | chr14:63119600-63120600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
