Variant report
| Variant | esv3408709 |
|---|---|
| Chromosome Location | chr3:51052337-51055785 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs535577624 | chr3:51054608-51054609 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs577363853 | chr3:51054656-51054657 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs544755494 | chr3:51054670-51054671 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs185038276 | chr3:51054673-51054674 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs533016563 | chr3:51054741-51054742 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs143129542 | chr3:51054776-51054777 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs188358051 | chr3:51054791-51054792 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557815548 | chr3:51054810-51054811 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs11715556 | chr3:51054823-51054824 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs150073472 | chr3:51054873-51054874 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs555424550 | chr3:51054877-51054878 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs9818841 | chr3:51054878-51054879 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs9682552 | chr3:51054881-51054882 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs562519361 | chr3:51054912-51054913 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs145175809 | chr3:51054921-51054922 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs111566860 | chr3:51054926-51054927 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs9860862 | chr3:51054978-51054979 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs528763016 | chr3:51054987-51054988 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs143660974 | chr3:51055000-51055001 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs568130750 | chr3:51055072-51055073 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs529209476 | chr3:51055079-51055080 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs192643389 | chr3:51055132-51055133 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs569008500 | chr3:51055134-51055135 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs184629100 | chr3:51055178-51055179 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs188134306 | chr3:51055195-51055196 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:85)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Glioblastoma multiforme | 21080181 | 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 |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 20688739 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:51054600-51055200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
