Variant report
| Variant | esv3786 |
|---|---|
| Chromosome Location | chr12:72977673-72977924 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs566758589 | chr12:72977679-72977680 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs12821081 | chr12:72977698-72977699 | Weak transcription Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs558714818 | chr12:72977701-72977702 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs577005834 | chr12:72977707-72977708 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs71071841 | chr12:72977730-72977731 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs570259144 | chr12:72977736-72977737 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs537908993 | chr12:72977766-72977767 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs555846119 | chr12:72977771-72977772 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs574069669 | chr12:72977797-72977798 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs541443306 | chr12:72977849-72977850 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs142577197 | chr12:72977852-72977853 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs66461847 | chr12:72977860-72977861 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs559747925 | chr12:72977901-72977902 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs35241720 | chr12:72977917-72977918 | Weak transcription Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:73)
| 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 |
| Colorectal cancer | 16272173 | 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 |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Disease | 21505450 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Autism | 20685689 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | 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 |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Cancer | 20164920 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:72958200-72984400 | Weak transcription | Pancreas | Pancrea |
| 2 | chr12:72964400-72986800 | Weak transcription | Fetal Intestine Large | intestine |
| 3 | chr12:72970600-72982800 | Weak transcription | Ovary | ovary |
| 4 | chr12:72971200-72978600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 5 | chr12:72977400-72978000 | Active TSS | Foreskin Keratinocyte Primary Cells skin03 | Skin |
