Variant report
| Variant | esv3439234 |
|---|---|
| Chromosome Location | chr12:49115458-49115761 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000129315 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs372487658 | chr12:49115458-49115459 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs71080146 | chr12:49115471-49115472 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs111388917 | chr12:49115472-49115473 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs545721736 | chr12:49115477-49115478 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs79874149 | chr12:49115496-49115497 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs191007814 | chr12:49115497-49115498 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs11837303 | chr12:49115612-49115613 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs145909049 | chr12:49115643-49115644 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs552338175 | chr12:49115723-49115724 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs568916787 | chr12:49115738-49115739 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs538044312 | chr12:49115744-49115745 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs117525027 | chr12:49115753-49115754 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:69)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Adenoid cystic carcinoma | 18332873 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Melanoma | 18172304 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| liposarcomas | 17372913 | CNVD |
| Non-small cell lung cancer | 24170126 | CNVD |
| Cancer | 16751803 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Intracranial aneurysm | 16715129 | CNVD |
| Breast cancer | 17661082 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21785460 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 17160897 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
