Variant report
| Variant | esv2761610 |
|---|---|
| Chromosome Location | chr14:38799454-38800374 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs370295705 | chr14:38799467-38799468 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs534110984 | chr14:38799504-38799505 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs1168453 | chr14:38799520-38799521 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs573650601 | chr14:38799596-38799597 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs190183762 | chr14:38799626-38799627 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548851174 | chr14:38799653-38799654 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs555843462 | chr14:38799711-38799712 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs1475516 | chr14:38799740-38799741 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs1183883 | chr14:38799796-38799797 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs61156259 | chr14:38799806-38799807 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs182716684 | chr14:38799817-38799818 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs1183884 | chr14:38799819-38799820 | Enhancers Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs187399233 | chr14:38799829-38799830 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs529330582 | chr14:38799879-38799880 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs549460613 | chr14:38799883-38799884 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs569130306 | chr14:38799973-38799974 | Enhancers Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 21298110 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Thyroid cancer | 19470727 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:38798600-38800000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr14:38798800-38800000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 3 | chr14:38799000-38800000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 4 | chr14:38799200-38799800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr14:38799400-38799600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr14:38799600-38800000 | Flanking Active TSS | iPS-20b Cell Line | embryonic stem cell |
