Variant report
| Variant | esv3328983 |
|---|---|
| Chromosome Location | chr12:87709230-87709448 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs531675879 | chr12:87709236-87709237 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs199858847 | chr12:87709298-87709299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs376370023 | chr12:87709348-87709349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs12833117 | chr12:87709357-87709358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12810284 | chr12:87709359-87709360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs12833140 | chr12:87709369-87709370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs12810293 | chr12:87709371-87709372 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs12810307 | chr12:87709395-87709396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs71078977 | chr12:87709404-87709405 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs11104420 | chr12:87709407-87709408 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs368620263 | chr12:87709417-87709418 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs371086207 | chr12:87709419-87709420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs9804918 | chr12:87709429-87709430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs60653954 | chr12:87709439-87709440 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs9804919 | chr12:87709441-87709442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | 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 |
| Ovarian cancer | 21720365 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Melanoma | 17363583 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:87705800-87711000 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 2 | chr12:87708800-87712400 | Weak transcription | Aorta | Aorta |
| 3 | chr12:87709000-87711800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
