Variant report
| Variant | esv3354832 |
|---|---|
| Chromosome Location | chr3:89915462-89919760 |
| 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 | rs541740570 | chr3:89916203-89916204 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs560369359 | chr3:89916240-89916241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs527501960 | chr3:89916251-89916252 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs552385571 | chr3:89916259-89916260 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs143526668 | chr3:89916273-89916274 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs565181574 | chr3:89916295-89916296 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs113831016 | chr3:89916331-89916332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs56188709 | chr3:89916392-89916393 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 9 | rs549885920 | chr3:89916479-89916480 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs568076724 | chr3:89916482-89916483 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs535413461 | chr3:89916510-89916511 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs548603825 | chr3:89916511-89916512 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs567114674 | chr3:89916546-89916547 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs558350890 | chr3:89916561-89916562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs146665262 | chr3:89916562-89916563 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs13071644 | chr3:89916564-89916565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Acute myeloid leukemia | 20729466 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Cancer | 20164920 | CNVD |
| Lung cancer | 19547694 | CNVD |
| Cancer | 20164919 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:89916200-89916600 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
