Variant report
| Variant | nsv826922 |
|---|---|
| Chromosome Location | chr14:36980437-36980889 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs529407811 | chr14:36980442-36980443 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs142925289 | chr14:36980623-36980624 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147427880 | chr14:36980678-36980679 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs537887954 | chr14:36980691-36980692 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557199201 | chr14:36980694-36980695 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs570677327 | chr14:36980699-36980700 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs11626201 | chr14:36980700-36980701 | Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs190635944 | chr14:36980715-36980716 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs183240146 | chr14:36980768-36980769 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs139681782 | chr14:36980787-36980788 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs10143724 | chr14:36980803-36980804 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs10143627 | chr14:36980810-36980811 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs528965447 | chr14:36980812-36980813 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs555075707 | chr14:36980820-36980821 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs76916340 | chr14:36980834-36980835 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs542255902 | chr14:36980837-36980838 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs552549527 | chr14:36980844-36980845 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | 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 |
| 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | 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 |
| Lung cancer | 17925434 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21364760 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 21298110 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 20031968 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:36980000-36981200 | Weak transcription | Lung | lung |
| 2 | chr14:36980200-36982400 | Active TSS | Ganglion Eminence derived primary cultured neurospheres | brain |
