Variant report
| Variant | nsv8965 |
|---|---|
| Chromosome Location | chr12:38865144-38870800 |
| 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 | rs529790906 | chr12:38867891-38867892 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs549295920 | chr12:38867893-38867894 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs569094210 | chr12:38867898-38867899 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs542474821 | chr12:38867942-38867943 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs538066057 | chr12:38867957-38867958 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs551825558 | chr12:38867996-38867997 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs369323907 | chr12:38868012-38868013 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs534155960 | chr12:38868025-38868026 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs188338226 | chr12:38868109-38868110 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs191096811 | chr12:38868113-38868114 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs536527192 | chr12:38868114-38868115 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs556530399 | chr12:38868125-38868126 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs576268074 | chr12:38868139-38868140 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs145814921 | chr12:38868151-38868152 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs544893804 | chr12:38868152-38868153 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs564945621 | chr12:38868163-38868164 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs572040224 | chr12:38868175-38868176 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs144371967 | chr12:38868176-38868177 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs147803078 | chr12:38868184-38868185 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs552841044 | chr12:38868198-38868199 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| 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 |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Renal cell carcinoma | 18194544 | 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 |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Cancer | 21183584 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Autism | 20858243 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 20164920 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:38867800-38868200 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr12:38870800-38871000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
