Variant report
| Variant | esv3414372 |
|---|---|
| Chromosome Location | chr10:23677617-23677919 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs372045132 | chr10:23677632-23677633 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs562216928 | chr10:23677675-23677676 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs148697924 | chr10:23677689-23677690 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs540474547 | chr10:23677692-23677693 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs144380177 | chr10:23677728-23677729 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs147827444 | chr10:23677736-23677737 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs189453310 | chr10:23677740-23677741 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs181291619 | chr10:23677742-23677743 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs183921804 | chr10:23677749-23677750 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs188416215 | chr10:23677813-23677814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs4748878 | chr10:23677824-23677825 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs145450148 | chr10:23677840-23677841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs374033774 | chr10:23677849-23677850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs117730395 | chr10:23677861-23677862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs547628931 | chr10:23677870-23677871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:38)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| T-cell lymphomas | 19863542 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Behavioral abnormalities | 21522184 | CNVD |
| Dysmorphic features | 21522184 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:23671000-23679600 | Weak transcription | Placenta | Placenta |
| 2 | chr10:23677400-23677800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
