Variant report
| Variant | esv3396044 |
|---|---|
| Chromosome Location | chr12:85419187-85419597 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs192606868 | chr12:85419197-85419198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs550453822 | chr12:85419198-85419199 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs184891790 | chr12:85419208-85419209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs189141042 | chr12:85419214-85419215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs544169668 | chr12:85419250-85419251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs547648961 | chr12:85419302-85419303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs12310874 | chr12:85419305-85419306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs535928816 | chr12:85419309-85419310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs112278291 | chr12:85419348-85419349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs11116688 | chr12:85419406-85419407 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs569303625 | chr12:85419437-85419438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs536599999 | chr12:85419459-85419460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs570537931 | chr12:85419463-85419464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs139193983 | chr12:85419465-85419466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs529806026 | chr12:85419546-85419547 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs199540017 | chr12:85419587-85419588 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs397780384 | chr12:85419588-85419589 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs373778004 | chr12:85419589-85419590 | Weak transcription | n/a | n/a | Overlapped CNVs | 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 |
| 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 |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:85415800-85422400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr12:85418000-85419800 | Weak transcription | Hela-S3 | cervix |
