Variant report
| Variant | esv3415768 |
|---|---|
| Chromosome Location | chr14:97654055-97657792 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs9323964 | chr14:97654649-97654650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs141420920 | chr14:97654684-97654685 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs145189890 | chr14:97654774-97654775 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs549876698 | chr14:97655712-97655713 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs553222762 | chr14:97655715-97655716 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568455776 | chr14:97655723-97655724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs535488325 | chr14:97655747-97655748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs554020736 | chr14:97655753-97655754 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572452133 | chr14:97655780-97655781 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs539635600 | chr14:97655808-97655809 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs114514864 | chr14:97655813-97655814 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs181064371 | chr14:97655891-97655892 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs573008118 | chr14:97655896-97655897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs186410670 | chr14:97655933-97655934 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs543526830 | chr14:97655997-97655998 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs371326366 | chr14:97656037-97656038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs376809155 | chr14:97656039-97656040 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs8008431 | chr14:97656099-97656100 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs8009842 | chr14:97656103-97656104 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs559686333 | chr14:97656142-97656143 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| 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 |
| 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Lung cancer | 18438408 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| cataract | 16735990 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Cancer | 20164920 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Acute lymphoblastic leukemia | 20139093 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| small cell lung cancer | 17426248 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Non-small cell lung cancer | 18320023 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 17440070 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:97654600-97654800 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr14:97655600-97656200 | Enhancers | Brain Germinal Matrix | brain |
