Variant report
| Variant | esv1957648 |
|---|---|
| Chromosome Location | chr12:86143223-86143628 |
| 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 | rs539466484 | chr12:86143240-86143241 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs546629547 | chr12:86143263-86143264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs2405613 | chr12:86143264-86143265 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs530610991 | chr12:86143283-86143284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs552100291 | chr12:86143286-86143287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs563994121 | chr12:86143350-86143351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs184290892 | chr12:86143369-86143370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546242223 | chr12:86143377-86143378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs568167536 | chr12:86143380-86143381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs138964098 | chr12:86143393-86143394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs532441259 | chr12:86143395-86143396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs146216013 | chr12:86143437-86143438 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs372270179 | chr12:86143440-86143441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs4441092 | chr12:86143482-86143483 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs2405614 | chr12:86143508-86143509 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs2405615 | chr12:86143525-86143526 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs61370681 | chr12:86143544-86143545 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs537641401 | chr12:86143567-86143568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs555546843 | chr12:86143575-86143576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs11117021 | chr12:86143624-86143625 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:63)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:86142200-86145600 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 2 | chr12:86142400-86145400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
