Variant report
| Variant | nsv559655 |
|---|---|
| Chromosome Location | chr12:85492871-85512367 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:85500330..85501960-chr12:85504219..85505982,2 | K562 | blood: | |
| 2 | chr12:85496315..85499030-chr12:85506456..85509353,2 | K562 | blood: | |
| 3 | chr12:85496315..85499030-chr12:85506456..85509353,2 | K562 | blood: | |
| 4 | chr12:85500330..85501960-chr12:85504219..85505982,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs377663639 | chr12:85511811-85511812 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs186820302 | chr12:85511889-85511890 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs112420919 | chr12:85511923-85511924 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200571818 | chr12:85511979-85511980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs576890901 | chr12:85511983-85511984 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs560844299 | chr12:85512002-85512003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs531357682 | chr12:85512007-85512008 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs369062670 | chr12:85512039-85512040 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs34556983 | chr12:85512045-85512046 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs75460496 | chr12:85512075-85512076 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs191753261 | chr12:85512093-85512094 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs553801372 | chr12:85512097-85512098 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs182519275 | chr12:85512103-85512104 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs539599612 | chr12:85512194-85512195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs149482351 | chr12:85512195-85512196 | 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 | chr12:85511800-85512200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
