Variant report
| Variant | esv3326325 |
|---|---|
| Chromosome Location | chr14:84898944-84899417 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs546789968 | chr14:84899003-84899004 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs61985645 | chr14:84899006-84899007 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs539979119 | chr14:84899026-84899027 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs566693430 | chr14:84899043-84899044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs557432347 | chr14:84899119-84899120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs575993587 | chr14:84899166-84899167 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs76797099 | chr14:84899181-84899182 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs149399497 | chr14:84899204-84899205 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs183398250 | chr14:84899219-84899220 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs147500172 | chr14:84899229-84899230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs540275175 | chr14:84899263-84899264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs187286610 | chr14:84899325-84899326 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs573441429 | chr14:84899349-84899350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs140105910 | chr14:84899371-84899372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs562170433 | chr14:84899389-84899390 | 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 |
| 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 |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Cancer | 20164920 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:84896400-84899000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr14:84898800-84899800 | Enhancers | Pancreatic Islets | Pancreatic Islet |
| 3 | chr14:84899000-84899400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr14:84899200-84899600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 5 | chr14:84899200-84899600 | Enhancers | Fetal Muscle Leg | muscle |
