Variant report
| Variant | esv3377432 |
|---|---|
| Chromosome Location | chr14:81096371-81096749 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs540261856 | chr14:81096429-81096430 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs561845957 | chr14:81096478-81096479 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs10220635 | chr14:81096491-81096492 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs370943297 | chr14:81096501-81096502 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs544701616 | chr14:81096524-81096525 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs181781429 | chr14:81096538-81096539 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs562895020 | chr14:81096540-81096541 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs137858471 | chr14:81096607-81096608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs569286569 | chr14:81096678-81096679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs8016670 | chr14:81096699-81096700 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs113557540 | chr14:81096733-81096734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs75287355 | chr14:81096734-81096735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs112847664 | chr14:81096741-81096742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs143099351 | chr14:81096747-81096748 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 20164920 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:81083400-81109400 | Weak transcription | Dnd41 | blood |
| 2 | chr14:81087400-81104200 | Weak transcription | HSMM | muscle |
| 3 | chr14:81088600-81099400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr14:81095600-81096600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
