Variant report
| Variant | esv3341943 |
|---|---|
| Chromosome Location | chr12:87682533-87697186 |
| 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:44 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs7300553 | chr12:87682573-87682574 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs369502721 | chr12:87682578-87682579 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs138657152 | chr12:87682580-87682581 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs570163858 | chr12:87682585-87682586 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11330025 | chr12:87682623-87682624 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs180740575 | chr12:87682671-87682672 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs147651831 | chr12:87682764-87682765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs186343515 | chr12:87682765-87682766 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572679802 | chr12:87682792-87682793 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs541684193 | chr12:87682853-87682854 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs190743332 | chr12:87682858-87682859 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs573261692 | chr12:87682887-87682888 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs142720101 | chr12:87682930-87682931 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs183453438 | chr12:87682944-87682945 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs147418823 | chr12:87682957-87682958 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs374048362 | chr12:87682990-87682991 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs148066053 | chr12:87683150-87683151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs565066923 | chr12:87683188-87683189 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs527610697 | chr12:87683212-87683213 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs564490811 | chr12:87683224-87683225 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs77278645 | chr12:87683227-87683228 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs550949824 | chr12:87683270-87683271 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs567671647 | chr12:87683296-87683297 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs186964581 | chr12:87683303-87683304 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs377656473 | chr12:87683406-87683407 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs570087508 | chr12:87683481-87683482 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs191339932 | chr12:87683494-87683495 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs202039360 | chr12:87683640-87683641 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs558909099 | chr12:87683690-87683691 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs566231780 | chr12:87683716-87683717 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs535017305 | chr12:87683779-87683780 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs533645992 | chr12:87692658-87692659 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs76901431 | chr12:87692704-87692705 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs559360790 | chr12:87692711-87692712 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs57584906 | chr12:87692731-87692732 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs140966789 | chr12:87692757-87692758 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs374988046 | chr12:87692773-87692774 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs568145341 | chr12:87692838-87692839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs567419798 | chr12:87692919-87692920 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs149901974 | chr12:87692925-87692926 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs369063564 | chr12:87692932-87692933 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs113784210 | chr12:87692969-87692970 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs570439329 | chr12:87692976-87692977 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs539317473 | chr12:87692981-87692982 | Enhancers | 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 | chr12:87681600-87683000 | Enhancers | Fetal Lung | lung |
| 2 | chr12:87683000-87683800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
| 3 | chr12:87692600-87693000 | Enhancers | Pancreas | Pancrea |
