No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
rs543495027 |
chr21:47164353-47164354 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
2 |
rs182669482 |
chr21:47164372-47164373 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
3 |
rs563392945 |
chr21:47164389-47164390 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
4 |
rs370302534 |
chr21:47164398-47164399 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
5 |
rs150240604 |
chr21:47164403-47164404 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
6 |
rs551469557 |
chr21:47164404-47164405 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
7 |
rs186852780 |
chr21:47164405-47164406 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
8 |
rs539251046 |
chr21:47164457-47164458 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
9 |
rs569778790 |
chr21:47164464-47164465 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
10 |
rs532578054 |
chr21:47164491-47164492 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
11 |
rs537267617 |
chr21:47164593-47164594 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
12 |
rs555905009 |
chr21:47164616-47164617 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
13 |
rs192904038 |
chr21:47164796-47164797 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
14 |
rs117953000 |
chr21:47164799-47164800 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
15 |
rs73232744 |
chr21:47164827-47164828 |
Weak transcription Strong transcription Enhancers ZNF genes & repeats
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
16 |
rs577724438 |
chr21:47164831-47164832 |
Weak transcription Strong transcription Enhancers ZNF genes & repeats
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
17 |
rs78129080 |
chr21:47165051-47165052 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
18 |
rs386819364 |
chr21:47165105-47165106 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
19 |
rs185159788 |
chr21:47165106-47165107 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
20 |
rs542492828 |
chr21:47165155-47165156 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
21 |
rs528369101 |
chr21:47165165-47165166 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
22 |
rs570591123 |
chr21:47165176-47165177 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
23 |
rs561129412 |
chr21:47165179-47165180 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
24 |
rs145809318 |
chr21:47165224-47165225 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
25 |
rs540524635 |
chr21:47165315-47165316 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
26 |
rs564796565 |
chr21:47165339-47165340 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
27 |
rs533169614 |
chr21:47165352-47165353 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
28 |
rs551332365 |
chr21:47165370-47165371 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
29 |
rs111471994 |
chr21:47165384-47165385 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
30 |
rs569840730 |
chr21:47165394-47165395 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
31 |
rs530895194 |
chr21:47165425-47165426 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
32 |
rs549349418 |
chr21:47165426-47165427 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
33 |
rs8127571 |
chr21:47165429-47165430 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
LD-proxies of rSNPOverlapped rCNV
|
mRNA abundancedisease
|
34 |
rs534867440 |
chr21:47165437-47165438 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding regionCpG island
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
35 |
rs142753060 |
chr21:47165448-47165449 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding regionCpG island
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
36 |
rs546247313 |
chr21:47165578-47165579 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
37 |
rs564894372 |
chr21:47165632-47165633 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
38 |
rs370157117 |
chr21:47165701-47165702 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
39 |
rs190447776 |
chr21:47165723-47165724 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
40 |
rs368127748 |
chr21:47165739-47165740 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
41 |
rs556981277 |
chr21:47165788-47165789 |
Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS
|
TF binding regionCpG island
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
42 |
rs28583990 |
chr21:47165804-47165805 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive region
|
2 gene(s)
|
LD-proxies of rSNPOverlapped rCNV
|
mRNA abundance
|
43 |
rs111653234 |
chr21:47165829-47165830 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive region
|
2 gene(s)
|
Overlapped CNVs
|
n/a
|
44 |
rs111613228 |
chr21:47165843-47165844 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionChromatin interactive region
|
2 gene(s)
|
Overlapped CNVs
|
n/a
|
45 |
rs199934496 |
chr21:47165854-47165855 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionChromatin interactive region
|
2 gene(s)
|
Overlapped CNVs
|
n/a
|
46 |
rs554322353 |
chr21:47165857-47165858 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionChromatin interactive region
|
2 gene(s)
|
Overlapped CNVs
|
n/a
|
47 |
rs375186394 |
chr21:47165860-47165861 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionChromatin interactive region
|
2 gene(s)
|
Overlapped CNVs
|
n/a
|
48 |
rs148003794 |
chr21:47165876-47165877 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionChromatin interactive region
|
2 gene(s)
|
Overlapped CNVs
|
n/a
|
49 |
rs112236594 |
chr21:47165877-47165878 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionChromatin interactive region
|
2 gene(s)
|
Overlapped CNVs
|
n/a
|
50 |
rs113148679 |
chr21:47165879-47165880 |
Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS
|
TF binding regionChromatin interactive region
|
2 gene(s)
|
Overlapped CNVs
|
n/a
|