Variant report
| Variant | esv2023362 |
|---|---|
| Chromosome Location | chr10:19807594-19807595 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr10:19806044..19808111-chr10:19811941..19813567,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs201258931 | chr10:19807594-19807595 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:42)
| 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 |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:19796200-19839400 | Weak transcription | Aorta | Aorta |
| 2 | chr10:19806800-19821800 | Weak transcription | Fetal Intestine Large | intestine |
| 3 | chr10:19807400-19808000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 4 | chr10:19807400-19821000 | Weak transcription | Fetal Intestine Small | intestine |
