Variant report
| Variant | esv3332825 |
|---|---|
| Chromosome Location | chr3:89536962-89539060 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs575231105 | chr3:89538200-89538201 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs143116298 | chr3:89538225-89538226 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs551091232 | chr3:89538344-89538345 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs567770803 | chr3:89538355-89538356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs534675301 | chr3:89538360-89538361 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs11706497 | chr3:89538366-89538367 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs370124998 | chr3:89538384-89538385 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs146678567 | chr3:89538385-89538386 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs564252304 | chr3:89538407-89538408 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs367861954 | chr3:89538419-89538420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs76735850 | chr3:89538436-89538437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs184114569 | chr3:89538458-89538459 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs972030 | chr3:89538498-89538499 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 14 | rs554337006 | chr3:89538541-89538542 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs572907214 | chr3:89538544-89538545 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs140281642 | chr3:89538547-89538548 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs564873240 | chr3:89538553-89538554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs532188005 | chr3:89538558-89538559 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs560716932 | chr3:89538591-89538592 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs114072919 | chr3:89538649-89538650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs574407286 | chr3:89538682-89538683 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs73146907 | chr3:89538747-89538748 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs530986036 | chr3:89538759-89538760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:76)
| 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 |
| Acute lymphoblastic leukemia | 20435627 | 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 |
| Wilms tumour | 21544195 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| small cell lung cancer | 20016488 | 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 |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Melanoma | 20877625 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:89538200-89538600 | Enhancers | Adipose Nuclei | Adipose |
| 2 | chr3:89538200-89538800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 3 | chr3:89538400-89538800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
