Variant report
| Variant | esv5822 |
|---|---|
| Chromosome Location | chr12:86523228-86523886 |
| 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 | rs863397 | chr12:86523259-86523260 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs4586245 | chr12:86523266-86523267 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs7487426 | chr12:86523278-86523279 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs553208894 | chr12:86523281-86523282 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs35391935 | chr12:86523282-86523283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs201950203 | chr12:86523326-86523327 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs200409663 | chr12:86523327-86523328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs201156233 | chr12:86523328-86523329 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs148572792 | chr12:86523623-86523624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs199769772 | chr12:86523635-86523636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs142926647 | chr12:86523708-86523709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs146110032 | chr12:86523709-86523710 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs188740122 | chr12:86523724-86523725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs74405472 | chr12:86523804-86523805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs12815148 | chr12:86523808-86523809 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs140190507 | chr12:86523841-86523842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs143873424 | chr12:86523850-86523851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs146431743 | chr12:86523869-86523870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:64)
| 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 |
| 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 |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:86522600-86523400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr12:86523400-86528200 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
