Variant report
| Variant | esv2030521 |
|---|---|
| Chromosome Location | chr10:19397114-19397846 |
| 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:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs8181341 | chr10:19397121-19397122 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs539796936 | chr10:19397149-19397150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs190129554 | chr10:19397172-19397173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs11008503 | chr10:19397235-19397236 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs537784673 | chr10:19397308-19397309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs375515825 | chr10:19397316-19397317 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs11008504 | chr10:19397318-19397319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs147260219 | chr10:19397319-19397320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs139267490 | chr10:19397324-19397325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs35948766 | chr10:19397354-19397355 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs61851286 | chr10:19397357-19397358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs568092097 | chr10:19397404-19397405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs537020151 | chr10:19397412-19397413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs201274655 | chr10:19397468-19397469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs372006890 | chr10:19397469-19397470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs370548981 | chr10:19397520-19397521 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs555662147 | chr10:19397593-19397594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs548761034 | chr10:19397598-19397599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs573871240 | chr10:19397636-19397637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs567124807 | chr10:19397637-19397638 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs552607902 | chr10:19397641-19397642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs12221192 | chr10:19397655-19397656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs577318250 | chr10:19397707-19397708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs544674114 | chr10:19397759-19397760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs75994757 | chr10:19397776-19397777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs557444399 | chr10:19397792-19397793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs74120725 | chr10:19397802-19397803 | Weak transcription ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:40)
| 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 |
| Intracranial aneurysm | 16715129 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Epilepsy | 22083797 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:19392600-19398000 | Weak transcription | Fetal Intestine Small | intestine |
| 2 | chr10:19393200-19398000 | Weak transcription | Duodenum Mucosa | Duodenum |
| 3 | chr10:19397800-19398000 | ZNF genes & repeats | Fetal Intestine Large | intestine |
