Variant report
| Variant | esv3419510 |
|---|---|
| Chromosome Location | chr2:188025057-188027005 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs572014879 | chr2:188026427-188026428 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs189185890 | chr2:188026463-188026464 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs560764587 | chr2:188026499-188026500 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs575717994 | chr2:188026545-188026546 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs181275716 | chr2:188026569-188026570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs114121987 | chr2:188026571-188026572 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs532173011 | chr2:188026600-188026601 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs575359841 | chr2:188026630-188026631 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs59567244 | chr2:188026634-188026635 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs544066110 | chr2:188026647-188026648 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs142141594 | chr2:188026661-188026662 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs185054518 | chr2:188026670-188026671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs547619516 | chr2:188026685-188026686 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs75645257 | chr2:188026697-188026698 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs573381680 | chr2:188026705-188026706 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs552682998 | chr2:188026723-188026724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs570868129 | chr2:188026759-188026760 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs189023090 | chr2:188026766-188026767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs79002848 | chr2:188026792-188026793 | Enhancers | n/a | n/a | Overlapped CNVs | 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 |
| 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 |
| 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:188026400-188026800 | Enhancers | Fetal Lung | lung |
