Variant report
| Variant | esv3375846 |
|---|---|
| Chromosome Location | chr12:38783637-38783946 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs552242714 | chr12:38783642-38783643 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs542358849 | chr12:38783644-38783645 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs566174636 | chr12:38783695-38783696 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs180987268 | chr12:38783701-38783702 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs184942242 | chr12:38783716-38783717 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs189642102 | chr12:38783753-38783754 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs116564000 | chr12:38783759-38783760 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs142414791 | chr12:38783779-38783780 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs115978053 | chr12:38783785-38783786 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs35893097 | chr12:38783813-38783814 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs560638511 | chr12:38783814-38783815 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs372424310 | chr12:38783828-38783829 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs545783834 | chr12:38783922-38783923 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs10880998 | chr12:38783937-38783938 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs182623134 | chr12:38783941-38783942 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs541917386 | chr12:38783945-38783946 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 20858243 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:38779600-38784600 | Weak transcription | HMEC | breast |
| 2 | chr12:38780800-38799000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 3 | chr12:38781800-38785800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 4 | chr12:38782400-38785800 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
| 5 | chr12:38783000-38787200 | Enhancers | Hela-S3 | cervix |
| 6 | chr12:38783600-38787200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
