Variant report
| Variant | esv3460802 |
|---|---|
| Chromosome Location | chr2:53487779-53488057 |
| 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 | rs72894110 | chr2:53487779-53487780 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs537498731 | chr2:53487794-53487795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs147514851 | chr2:53487799-53487800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs186865973 | chr2:53487840-53487841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs80002227 | chr2:53487844-53487845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs142739124 | chr2:53487845-53487846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs374350175 | chr2:53487848-53487849 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200766495 | chr2:53487849-53487850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs371135428 | chr2:53487851-53487852 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs114041758 | chr2:53487860-53487861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs557338438 | chr2:53487872-53487873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs575265400 | chr2:53487887-53487888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs193002763 | chr2:53487905-53487906 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs10174283 | chr2:53487916-53487917 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs578195451 | chr2:53487924-53487925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs540875881 | chr2:53487940-53487941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs13406218 | chr2:53487957-53487958 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs195592 | chr2:53488034-53488035 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs139024292 | chr2:53488045-53488046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Leukemia | 18628472 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| abnormal development | 18461090 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Chronic lymphocytic leukemia | 17053054 | CNVD |
| Hereditary non-polyposis colorectal cancer | 19566914 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:53485800-53493000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
