Variant report
| Variant | nsv9852 | 
|---|---|
| Chromosome Location | chr21:15288831-15290942 | 
| 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 | rs116622380 | chr21:15288836-15288837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 2 | rs375526867 | chr21:15288854-15288855 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 3 | rs373550750 | chr21:15288855-15288856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 4 | rs201997637 | chr21:15288856-15288857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 5 | rs200449616 | chr21:15288871-15288872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 6 | rs367845645 | chr21:15288872-15288873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 7 | rs55755065 | chr21:15288873-15288874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 8 | rs74313272 | chr21:15288884-15288885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 9 | rs3094801 | chr21:15288903-15288904 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 10 | rs193276329 | chr21:15288906-15288907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 11 | rs575647492 | chr21:15288927-15288928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 12 | rs2107365 | chr21:15288950-15288951 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 13 | rs553337352 | chr21:15288954-15288955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 14 | rs572248468 | chr21:15288959-15288960 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 15 | rs2822253 | chr21:15288967-15288968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 16 | rs541377565 | chr21:15289013-15289014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 17 | rs438579 | chr21:15289026-15289027 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 18 | rs529943913 | chr21:15289040-15289041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 19 | rs543662230 | chr21:15289044-15289045 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 20 | rs3094802 | chr21:15289048-15289049 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 21 | rs3115460 | chr21:15289067-15289068 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 22 | rs551840448 | chr21:15289071-15289072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 23 | rs149715326 | chr21:15289096-15289097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 24 | rs147488235 | chr21:15289099-15289100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 25 | rs183616889 | chr21:15289115-15289116 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 26 | rs576252491 | chr21:15289130-15289131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 27 | rs548986901 | chr21:15289161-15289162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 28 | rs188331028 | chr21:15289176-15289177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 29 | rs370480073 | chr21:15289201-15289202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 30 | rs537216668 | chr21:15289214-15289215 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 31 | rs139949615 | chr21:15289226-15289227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 32 | rs181253989 | chr21:15289230-15289231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 33 | rs539972517 | chr21:15289248-15289249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 34 | rs3115461 | chr21:15289252-15289253 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 35 | rs3094804 | chr21:15289273-15289274 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 36 | rs184328170 | chr21:15289282-15289283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 37 | rs145353032 | chr21:15289331-15289332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 38 | rs4432555 | chr21:15289358-15289359 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 39 | rs79601972 | chr21:15289367-15289368 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 40 | rs398101485 | chr21:15289369-15289370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 41 | rs543601380 | chr21:15289419-15289420 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 42 | rs3094805 | chr21:15289443-15289444 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 43 | rs7509642 | chr21:15289449-15289450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 44 | rs7510220 | chr21:15289450-15289451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 45 | rs201572083 | chr21:15289454-15289455 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 46 | rs374467627 | chr21:15289480-15289481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 47 | rs576859303 | chr21:15289484-15289485 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 48 | rs190145566 | chr21:15289485-15289486 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a | 
| 49 | rs2822254 | chr21:15289513-15289514 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a | 
| 50 | rs370606879 | chr21:15289563-15289564 | 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 | 






