Variant report
| Variant | esv3388668 |
|---|---|
| Chromosome Location | chr10:18729402-18729628 |
| 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:13 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs140119503 | chr10:18729423-18729424 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs34777954 | chr10:18729427-18729428 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs59261128 | chr10:18729432-18729433 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs531877443 | chr10:18729462-18729463 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs550461867 | chr10:18729476-18729477 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568016232 | chr10:18729527-18729528 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs535491318 | chr10:18729545-18729546 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs563372452 | chr10:18729547-18729548 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs565805918 | chr10:18729559-18729560 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs77597037 | chr10:18729570-18729571 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs371965464 | chr10:18729579-18729580 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs557631183 | chr10:18729581-18729582 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs75634864 | chr10:18729593-18729594 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:41)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Melanoma | 18172304 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20724749 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164919 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:18703600-18732000 | Weak transcription | Pancreas | Pancrea |
| 2 | chr10:18719000-18730000 | Weak transcription | Aorta | Aorta |
| 3 | chr10:18724800-18738600 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 4 | chr10:18726000-18730000 | Enhancers | Fetal Heart | heart |
| 5 | chr10:18728400-18734200 | Weak transcription | Stomach Smooth Muscle | stomach |
| 6 | chr10:18729400-18730200 | Enhancers | Left Ventricle | heart |
| 7 | chr10:18729600-18730000 | Enhancers | Ovary | ovary |
