Variant report
| Variant | esv3329015 |
|---|---|
| Chromosome Location | chr2:186397757-186398099 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs186641922 | chr2:186397757-186397758 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs535419303 | chr2:186397827-186397828 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs145865139 | chr2:186397894-186397895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs529667815 | chr2:186397942-186397943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs556882400 | chr2:186397965-186397966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs566470143 | chr2:186398006-186398007 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs548177283 | chr2:186398032-186398033 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs533844796 | chr2:186398035-186398036 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs575177560 | chr2:186398052-186398053 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs191931067 | chr2:186398059-186398060 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs557504646 | chr2:186398092-186398093 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| 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 |
| 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 |
| Urothelial carcinoma | 21177765 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:186381400-186432400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr2:186394400-186402200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr2:186396800-186398000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 4 | chr2:186398000-186398600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
