Variant report
| Variant | esv3339646 |
|---|---|
| Chromosome Location | chr14:46221202-46226200 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs111712183 | chr14:46225000-46225001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs543799771 | chr14:46225021-46225022 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147718383 | chr14:46225058-46225059 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs563989822 | chr14:46225074-46225075 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs374148638 | chr14:46225103-46225104 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs1906816 | chr14:46225134-46225135 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs566842424 | chr14:46225139-46225140 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs549468002 | chr14:46225161-46225162 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs534199185 | chr14:46225163-46225164 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs142488828 | chr14:46225164-46225165 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs577295026 | chr14:46225175-46225176 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs546396021 | chr14:46225223-46225224 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs146782181 | chr14:46225240-46225241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs114387664 | chr14:46225243-46225244 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs1266308 | chr14:46225284-46225285 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs541691840 | chr14:46225287-46225288 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs187667999 | chr14:46225308-46225309 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs77637356 | chr14:46225368-46225369 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs139105988 | chr14:46225369-46225370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs141479058 | chr14:46225379-46225380 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs527391093 | chr14:46225387-46225388 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| 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 |
| Colorectal cancer | 16774939 | 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:46225000-46225400 | Enhancers | Esophagus | oesophagus |
