Variant report
| Variant | esv3346347 |
|---|---|
| Chromosome Location | chr14:55955474-55957972 |
| 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:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs10139709 | chr14:55955515-55955516 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs10139855 | chr14:55955718-55955719 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs113745564 | chr14:55955884-55955885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs550411441 | chr14:55955893-55955894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs117719266 | chr14:55955948-55955949 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs559697519 | chr14:55955987-55955988 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs539084692 | chr14:55956011-55956012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557313945 | chr14:55956040-55956041 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs187814138 | chr14:55956106-55956107 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12882670 | chr14:55956193-55956194 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:60)
| 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 |
| 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 |
| 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 | 21633010 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Heart disease | 21282601 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Medulloblastoma | 21163964 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:55954800-55955600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 2 | chr14:55954800-55956000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 3 | chr14:55955000-55955800 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 4 | chr14:55955000-55956000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 5 | chr14:55955000-55956000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 6 | chr14:55955000-55956000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 7 | chr14:55955400-55956200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
