Variant report
| Variant | esv3413985 |
|---|---|
| Chromosome Location | chr12:85283647-85283967 |
| 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:20 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs183050032 | chr12:85283648-85283649 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs17183671 | chr12:85283671-85283672 | Weak transcription Strong transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 3 | rs11296568 | chr12:85283711-85283712 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs188224722 | chr12:85283718-85283719 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs76561321 | chr12:85283735-85283736 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs543978384 | chr12:85283777-85283778 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559563168 | chr12:85283778-85283779 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562553851 | chr12:85283788-85283789 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs577758968 | chr12:85283809-85283810 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs76920718 | chr12:85283820-85283821 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs560473799 | chr12:85283821-85283822 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs192774767 | chr12:85283841-85283842 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs184376401 | chr12:85283850-85283851 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs189065280 | chr12:85283859-85283860 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs531494124 | chr12:85283863-85283864 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs150057907 | chr12:85283885-85283886 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs569010523 | chr12:85283888-85283889 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs539491119 | chr12:85283915-85283916 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs551348469 | chr12:85283932-85283933 | Weak transcription Strong transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs75748104 | chr12:85283952-85283953 | Weak transcription Strong transcription Enhancers | 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 | chr12:85251000-85303000 | Weak transcription | NHEK | skin |
| 2 | chr12:85251800-85285400 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 3 | chr12:85254000-85289800 | Weak transcription | Brain Angular Gyrus | brain |
| 4 | chr12:85255400-85284200 | Weak transcription | Brain Cingulate Gyrus | brain |
| 5 | chr12:85269200-85289800 | Weak transcription | Hela-S3 | cervix |
| 6 | chr12:85269400-85285800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 7 | chr12:85275400-85285400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 8 | chr12:85275800-85284000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 9 | chr12:85277800-85303000 | Weak transcription | HMEC | breast |
| 10 | chr12:85280800-85286000 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 11 | chr12:85281400-85302800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 12 | chr12:85283600-85286000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
