Variant report
| Variant | esv1733186 |
|---|---|
| Chromosome Location | chr21:28348536-28348634 |
| 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 | rs71183592 | chr21:28348537-28348538 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs553228951 | chr21:28348544-28348545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs28390155 | chr21:28348547-28348548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs189987063 | chr21:28348548-28348549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs372000832 | chr21:28348549-28348550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs569650434 | chr21:28348550-28348551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs28615767 | chr21:28348554-28348555 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs577789200 | chr21:28348555-28348556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs113405137 | chr21:28348560-28348561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs537828047 | chr21:28348575-28348576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs181120567 | chr21:28348593-28348594 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs62216007 | chr21:28348623-28348624 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs62216008 | chr21:28348625-28348626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs62216009 | chr21:28348633-28348634 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| Down syndrome | 17412756 | CNVD |
| Down syndrome | 17576883 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Seminomas | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Alzheimer''s disease | 18923514 | CNVD |
| Alzheimer''s disease | 20877625 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Alzheimer''s disease | 21956041 | CNVD |
| Cancer | 21183584 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Melanoma | 18172304 | CNVD |
| Autism | 22958593 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:28340400-28349600 | Weak transcription | HSMM | muscle |
| 2 | chr21:28346000-28349800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 3 | chr21:28346200-28349800 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 4 | chr21:28346200-28359400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 5 | chr21:28346400-28349600 | Weak transcription | Osteobl | bone |
| 6 | chr21:28346400-28349800 | Weak transcription | NHDF-Ad | bronchial |
| 7 | chr21:28346800-28349600 | Weak transcription | Ovary | ovary |
