Variant report
| Variant | esv1246198 |
|---|---|
| Chromosome Location | chr21:16043914-16043948 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr21:16027302..16029189-chr21:16043696..16046360,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs71183435 | chr21:16043915-16043916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs369770888 | chr21:16043916-16043917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs56065659 | chr21:16043917-16043918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs377650375 | chr21:16043922-16043923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs370967207 | chr21:16043924-16043925 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs61111621 | chr21:16043926-16043927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs9808806 | chr21:16043928-16043929 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs189695018 | chr21:16043941-16043942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs58128746 | chr21:16043944-16043945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs566362944 | chr21:16043948-16043949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| Disease | PMID | Source |
|---|---|---|
| Ovarian cancer | 21720365 | CNVD |
| 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 |
| Sudden cardiac death | 19188705 | 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 |
| Cancer | 20164919 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Autism | 18414403 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| abnormal development | 18461090 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Myelofibrosis | 22110671 | 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 |
| XY gonadal dysgenesis | 20685758 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| T-cell lymphomas | 22341440 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:16042400-16044400 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 2 | chr21:16043600-16045000 | Weak transcription | K562 | blood |
