Variant report
| Variant | esv3420712 |
|---|---|
| Chromosome Location | chr2:99574670-99576168 |
| 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:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs375480964 | chr2:99575627-99575628 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs569293138 | chr2:99575652-99575653 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs988825 | chr2:99575715-99575716 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 4 | rs549260893 | chr2:99575796-99575797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs112325335 | chr2:99575845-99575846 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs534912517 | chr2:99575913-99575914 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs189657178 | chr2:99575946-99575947 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183460830 | chr2:99575953-99575954 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs537539189 | chr2:99575956-99575957 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs151032294 | chr2:99576001-99576002 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:52)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 17483303 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21509527 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:99575600-99577200 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 2 | chr2:99575800-99576800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
