Variant report
| Variant | esv3459911 |
|---|---|
| Chromosome Location | chr2:187656468-187658146 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs546286399 | chr2:187657614-187657615 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs73037732 | chr2:187657621-187657622 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs557916254 | chr2:187657633-187657634 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs576947768 | chr2:187657642-187657643 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs376929585 | chr2:187657650-187657651 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs115842410 | chr2:187657687-187657688 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs536891657 | chr2:187657688-187657689 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs555536141 | chr2:187657708-187657709 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs373896448 | chr2:187657718-187657719 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529889084 | chr2:187657735-187657736 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs547788530 | chr2:187657738-187657739 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs6742050 | chr2:187657762-187657763 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs530549859 | chr2:187657774-187657775 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs540889138 | chr2:187657776-187657777 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:48)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Autism | 19329560 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:187657600-187657800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
