Variant report
| Variant | esv3393405 |
|---|---|
| Chromosome Location | chr2:184793533-184793901 |
| 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 | rs542532089 | chr2:184793575-184793576 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs374144458 | chr2:184793610-184793611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs550396663 | chr2:184793644-184793645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs556042995 | chr2:184793691-184793692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs79572294 | chr2:184793696-184793697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs541544837 | chr2:184793700-184793701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs564389090 | chr2:184793726-184793727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs533382765 | chr2:184793728-184793729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs543488462 | chr2:184793730-184793731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563693661 | chr2:184793742-184793743 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs529199890 | chr2:184793748-184793749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs548821099 | chr2:184793758-184793759 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs188310143 | chr2:184793793-184793794 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs826130 | chr2:184793800-184793801 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 15 | rs565250285 | chr2:184793830-184793831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs826129 | chr2:184793851-184793852 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:50)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 18522746 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | 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 |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Autism | 19329560 | CNVD |
| Autism | 22543975 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:184792400-184793600 | Enhancers | Fetal Lung | lung |
| 2 | chr2:184793000-184809000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
