Variant report
| Variant | esv8026 |
|---|---|
| Chromosome Location | chr12:84484240-84485055 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs147092898 | chr12:84484253-84484254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs190659235 | chr12:84484282-84484283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs182805023 | chr12:84484284-84484285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs112815635 | chr12:84484337-84484338 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs373217643 | chr12:84484339-84484340 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs377757798 | chr12:84484381-84484382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs546494884 | chr12:84484382-84484383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs188272482 | chr12:84484399-84484400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs528053026 | chr12:84484413-84484414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs138457089 | chr12:84484428-84484429 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs10862816 | chr12:84484461-84484462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539755424 | chr12:84484663-84484664 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs368745978 | chr12:84484799-84484800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs371274796 | chr12:84484800-84484801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs529117964 | chr12:84484854-84484855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs550477796 | chr12:84484872-84484873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs116256824 | chr12:84484916-84484917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs533073411 | chr12:84484921-84484922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs551219928 | chr12:84484929-84484930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs570514926 | chr12:84484969-84484970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs12831289 | chr12:84485026-84485027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs202030348 | chr12:84485051-84485052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs74106505 | chr12:84485055-84485056 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:66)
| 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 |
| Neurodevelopmental disorder | 22521361 | 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 |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| abnormal development | 18461090 | 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 |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:84479400-84495600 | Weak transcription | Fetal Heart | heart |
