Variant report
| Variant | nsv979554 | 
|---|---|
| Chromosome Location | chr21:15289207-15290299 | 
| 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)
 
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits | 
|---|---|---|---|---|---|---|---|
| 1 | rs537216668 | chr21:15289214-15289215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 2 | rs139949615 | chr21:15289226-15289227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 3 | rs181253989 | chr21:15289230-15289231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 4 | rs539972517 | chr21:15289248-15289249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 5 | rs3115461 | chr21:15289252-15289253 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 6 | rs3094804 | chr21:15289273-15289274 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 7 | rs184328170 | chr21:15289282-15289283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 8 | rs145353032 | chr21:15289331-15289332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 9 | rs4432555 | chr21:15289358-15289359 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 10 | rs79601972 | chr21:15289367-15289368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 11 | rs398101485 | chr21:15289369-15289370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 12 | rs543601380 | chr21:15289419-15289420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 13 | rs3094805 | chr21:15289443-15289444 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 14 | rs7509642 | chr21:15289449-15289450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 15 | rs7510220 | chr21:15289450-15289451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 16 | rs201572083 | chr21:15289454-15289455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 17 | rs374467627 | chr21:15289480-15289481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 18 | rs576859303 | chr21:15289484-15289485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 19 | rs190145566 | chr21:15289485-15289486 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 20 | rs2822254 | chr21:15289513-15289514 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 21 | rs370606879 | chr21:15289563-15289564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 22 | rs528102006 | chr21:15289615-15289616 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 23 | rs567215908 | chr21:15289632-15289633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 24 | rs181854331 | chr21:15289678-15289679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 25 | rs28696838 | chr21:15289731-15289732 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 26 | rs151319715 | chr21:15289733-15289734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 27 | rs575729919 | chr21:15289735-15289736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 28 | rs202039736 | chr21:15289736-15289737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 29 | rs187023990 | chr21:15289739-15289740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 30 | rs571067332 | chr21:15289767-15289768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 31 | rs140568746 | chr21:15289799-15289800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 32 | rs547101092 | chr21:15289864-15289865 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 33 | rs374539626 | chr21:15289866-15289867 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 34 | rs2989277 | chr21:15289911-15289912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 35 | rs566993402 | chr21:15289919-15289920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 36 | rs535813193 | chr21:15289932-15289933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 37 | rs555805980 | chr21:15289944-15289945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 38 | rs3115462 | chr21:15289974-15289975 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 39 | rs3094806 | chr21:15290025-15290026 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 40 | rs556865793 | chr21:15290036-15290037 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 41 | rs576999970 | chr21:15290037-15290038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 42 | rs3094807 | chr21:15290046-15290047 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 43 | rs3094808 | chr21:15290070-15290071 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 44 | rs137955373 | chr21:15290084-15290085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 45 | rs541379955 | chr21:15290092-15290093 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 46 | rs371727155 | chr21:15290109-15290110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 47 | rs531102827 | chr21:15290137-15290138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 48 | rs551292611 | chr21:15290177-15290178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 49 | rs529606127 | chr21:15290186-15290187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 50 | rs533542883 | chr21:15290197-15290198 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 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 | 
| Breast cancer | 21509527 | 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 | 
| Myelofibrosis | 22110671 | CNVD | 
| Congenital abnormalities | 21549014 | CNVD | 
| Developmental delay | 21549014 | CNVD | 
| Mental retardation | 21549014 | 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 | 
| Melanoma | 17363583 | CNVD | 
| Breast cancer | 22522925 | CNVD | 
| No. | Chromosome Location | Chromatin state | Cell line | Tissue | 
|---|---|---|---|---|
| 1 | chr21:15277000-15292200 | Weak transcription | Dnd41 | blood | 






