Variant report
Variant | nsv520685 |
---|---|
Chromosome Location | chr21:28985549-28993938 |
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 | rs7281711 | chr21:28985549-28985550 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs183778616 | chr21:28985589-28985590 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs189188462 | chr21:28985649-28985650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs9981345 | chr21:28985655-28985656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs566664146 | chr21:28985665-28985666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs531006728 | chr21:28985682-28985683 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs528575157 | chr21:28985702-28985703 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs551502081 | chr21:28985726-28985727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs555108910 | chr21:28985783-28985784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs373275013 | chr21:28985786-28985787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs146275355 | chr21:28985841-28985842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs562909129 | chr21:28985857-28985858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs66691857 | chr21:28985894-28985895 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs113455977 | chr21:28985937-28985938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs550865834 | chr21:28985979-28985980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs75107092 | chr21:28986011-28986012 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs139384014 | chr21:28986012-28986013 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs374717124 | chr21:28986075-28986076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs77422672 | chr21:28986109-28986110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs75303299 | chr21:28986110-28986111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs556232424 | chr21:28986175-28986176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs187000664 | chr21:28986201-28986202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs558713986 | chr21:28986216-28986217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs575431388 | chr21:28986228-28986229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs544192453 | chr21:28986231-28986232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs116566919 | chr21:28986266-28986267 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs34152838 | chr21:28986302-28986303 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs397825472 | chr21:28986305-28986306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs76811211 | chr21:28986406-28986407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs78991332 | chr21:28986429-28986430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs142012195 | chr21:28986442-28986443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201391456 | chr21:28986443-28986444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs117757612 | chr21:28986444-28986445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs371877664 | chr21:28986469-28986470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs560874867 | chr21:28986479-28986480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs55879537 | chr21:28986482-28986483 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
37 | rs540567424 | chr21:28986519-28986520 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs560081276 | chr21:28986548-28986549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs532373500 | chr21:28986549-28986550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs386817607 | chr21:28986617-28986618 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs379111 | chr21:28986639-28986640 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs571494702 | chr21:28986656-28986657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs143608975 | chr21:28986664-28986665 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs191825350 | chr21:28986694-28986695 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs1598852 | chr21:28986696-28986697 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs567696633 | chr21:28986697-28986698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs536532268 | chr21:28986745-28986746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs146798377 | chr21:28986769-28986770 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs566930209 | chr21:28986782-28986783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs2226785 | chr21:28986806-28986807 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
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 |
Gastric cancer | 18160780 | CNVD |
Mental retardation | 17621639 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr21:28970400-29018000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr21:28984400-28989400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr21:28989400-28989800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |