Variant report
| Variant | esv2165071 |
|---|---|
| Chromosome Location | chr3:20492629-20493063 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs541607883 | chr3:20492632-20492633 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563388146 | chr3:20492664-20492665 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs530458677 | chr3:20492688-20492689 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs552172236 | chr3:20492709-20492710 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs190657909 | chr3:20492715-20492716 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs182945649 | chr3:20492741-20492742 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs148133204 | chr3:20492766-20492767 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs372293450 | chr3:20492791-20492792 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs546868480 | chr3:20492795-20492796 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs76169037 | chr3:20492836-20492837 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs78788982 | chr3:20492854-20492855 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs377365461 | chr3:20492873-20492874 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs569310464 | chr3:20492987-20492988 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs539523406 | chr3:20492994-20492995 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs558151222 | chr3:20492999-20493000 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs572863155 | chr3:20493043-20493044 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs534226880 | chr3:20493046-20493047 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs555639289 | chr3:20493053-20493054 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs187803579 | chr3:20493059-20493060 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:73)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:20492600-20494000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
