Variant report
| Variant | esv3326778 |
|---|---|
| Chromosome Location | chr2:185191232-185194080 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:185160917..185163331-chr2:185190953..185193318,2 | K562 | blood: |
| 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 | rs7588228 | chr2:185191288-185191289 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs539758839 | chr2:185191295-185191296 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs546202915 | chr2:185191323-185191324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs558060682 | chr2:185191351-185191352 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs576406249 | chr2:185191449-185191450 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs564520232 | chr2:185191464-185191465 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs534362755 | chr2:185191465-185191466 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs140870415 | chr2:185191489-185191490 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs115102835 | chr2:185191553-185191554 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs543900628 | chr2:185191592-185191593 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs563520721 | chr2:185191621-185191622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs562099731 | chr2:185191626-185191627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs546104981 | chr2:185191629-185191630 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs564401585 | chr2:185191641-185191642 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs528493697 | chr2:185191642-185191643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs547061020 | chr2:185191706-185191707 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs562001972 | chr2:185191707-185191708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs577638904 | chr2:185191722-185191723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs529394719 | chr2:185191784-185191785 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| 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 |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Psychiatric disorder | 20548289 | CNVD |
| Psychosis | 20048749 | CNVD |
| Rectal cancer | 20877625 | CNVD |
| Schizophrenia | 20548289 | CNVD |
| anxiety disorder | 20548289 | CNVD |
| Autism | 20548289 | CNVD |
| Bipolar disorder | 20548289 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:185190800-185191800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
