Variant report
| Variant | nsv237212 |
|---|---|
| Chromosome Location | chr3:50766440-50767231 |
| 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 |
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Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs9682912 | chr3:50766440-50766441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs9682913 | chr3:50766444-50766445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs9681014 | chr3:50766463-50766464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs572292503 | chr3:50766489-50766490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs542944085 | chr3:50766490-50766491 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs561396822 | chr3:50766507-50766508 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs191427189 | chr3:50766648-50766649 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542253639 | chr3:50766709-50766710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs372798370 | chr3:50766787-50766788 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs370214912 | chr3:50766788-50766789 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs112747126 | chr3:50766798-50766799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs71084107 | chr3:50766810-50766811 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs377578313 | chr3:50766811-50766812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs200404996 | chr3:50766813-50766814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs565383051 | chr3:50766825-50766826 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs532700535 | chr3:50766893-50766894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs182797915 | chr3:50766914-50766915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs565914742 | chr3:50766978-50766979 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs187917031 | chr3:50767016-50767017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs548483544 | chr3:50767029-50767030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs549630469 | chr3:50767030-50767031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs9873164 | chr3:50767048-50767049 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs373141355 | chr3:50767118-50767119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs9817912 | chr3:50767126-50767127 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs558216604 | chr3:50767134-50767135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs576422940 | chr3:50767178-50767179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs9835512 | chr3:50767187-50767188 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs552630515 | chr3:50767192-50767193 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs572329685 | chr3:50767213-50767214 | Weak transcription | 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 |
| Cancer | 20164919 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:50763800-50772800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
