Variant report
| Variant | esv3351276 |
|---|---|
| Chromosome Location | chr14:41316228-41316818 |
| 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 | rs76183289 | chr14:41316408-41316409 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs567094562 | chr14:41316419-41316420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs534212217 | chr14:41316456-41316457 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs190433186 | chr14:41316470-41316471 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs2415641 | chr14:41316483-41316484 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs2415642 | chr14:41316495-41316496 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs556552295 | chr14:41316496-41316497 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs181243179 | chr14:41316521-41316522 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs535987190 | chr14:41316526-41316527 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs186233495 | chr14:41316535-41316536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs143805003 | chr14:41316551-41316552 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs2415643 | chr14:41316602-41316603 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs115270464 | chr14:41316625-41316626 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs577225898 | chr14:41316640-41316641 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs2415644 | chr14:41316647-41316648 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs557148764 | chr14:41316659-41316660 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs528678954 | chr14:41316696-41316697 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs530208582 | chr14:41316705-41316706 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs17579572 | chr14:41316712-41316713 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs141447298 | chr14:41316736-41316737 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs397852348 | chr14:41316737-41316738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs2415645 | chr14:41316768-41316769 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | 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 |
| 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 |
| 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 |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Thyroid cancer | 19470727 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Immune disease | 21076436 | CNVD |
| Immune disease | 21042300 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:41316400-41317200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
