Variant report
| Variant | esv3388044 |
|---|---|
| Chromosome Location | chr14:83059049-83061147 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs570897851 | chr14:83059145-83059146 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs116063911 | chr14:83059192-83059193 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs190736996 | chr14:83059198-83059199 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs572872152 | chr14:83059204-83059205 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs200766279 | chr14:83059207-83059208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568559931 | chr14:83059245-83059246 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs113945795 | chr14:83059253-83059254 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs535542609 | chr14:83059281-83059282 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs373607678 | chr14:83059282-83059283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs114394423 | chr14:83059321-83059322 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs576157172 | chr14:83059373-83059374 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs536990669 | chr14:83059376-83059377 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs181588278 | chr14:83059473-83059474 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs539444621 | chr14:83059516-83059517 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs576459118 | chr14:83059549-83059550 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs34951902 | chr14:83059562-83059563 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs559052721 | chr14:83059613-83059614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs147804319 | chr14:83059650-83059651 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs541513705 | chr14:83059686-83059687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs186563355 | chr14:83059692-83059693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs2798388 | chr14:83059786-83059787 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs552936280 | chr14:83059796-83059797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| 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 |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 20164920 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:83058400-83059800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr14:83059200-83059800 | Enhancers | Adipose Nuclei | Adipose |
