No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv531546 |
chr21:46504151-47411772 |
Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
93 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv1057807 |
chr21:46656346-47077374 |
Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
70 gene(s)
|
inside rSNPs
|
diseases
|
3 |
esv2762114 |
chr21:46680202-47067744 |
Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
68 gene(s)
|
inside rSNPs
|
diseases
|
4 |
nsv914012 |
chr21:46695039-47015661 |
Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
66 gene(s)
|
inside rSNPs
|
diseases
|
5 |
nsv1058665 |
chr21:46719445-47634282 |
Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
91 gene(s)
|
inside rSNPs
|
diseases
|
6 |
nsv544486 |
chr21:46719445-47634282 |
Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
91 gene(s)
|
inside rSNPs
|
diseases
|
7 |
nsv914027 |
chr21:46765580-46982335 |
Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
44 gene(s)
|
inside rSNPs
|
diseases
|
8 |
esv1794926 |
chr21:46781404-46965534 |
Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
39 gene(s)
|
inside rSNPs
|
diseases
|
9 |
nsv914037 |
chr21:46816363-46982335 |
Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
10 |
nsv914038 |
chr21:46817380-46964378 |
Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
36 gene(s)
|
inside rSNPs
|
diseases
|
11 |
nsv1058685 |
chr21:46819364-46967996 |
Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
36 gene(s)
|
inside rSNPs
|
diseases
|
12 |
nsv914044 |
chr21:46821907-46982335 |
Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
13 |
nsv1056917 |
chr21:46822253-46976682 |
Enhancers Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
14 |
nsv914046 |
chr21:46830873-46982335 |
Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
35 gene(s)
|
inside rSNPs
|
diseases
|
15 |
nsv516407 |
chr21:46830873-47040656 |
Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
37 gene(s)
|
inside rSNPs
|
diseases
|
16 |
nsv1066282 |
chr21:46839570-46966180 |
Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
28 gene(s)
|
inside rSNPs
|
diseases
|
17 |
nsv1057447 |
chr21:46839570-46976682 |
Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
32 gene(s)
|
inside rSNPs
|
diseases
|
18 |
nsv914048 |
chr21:46839904-47032872 |
Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
34 gene(s)
|
inside rSNPs
|
diseases
|
19 |
nsv834111 |
chr21:46843086-47005244 |
Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
31 gene(s)
|
inside rSNPs
|
diseases
|
20 |
esv1841607 |
chr21:46846944-46970385 |
Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
25 gene(s)
|
inside rSNPs
|
diseases
|
21 |
nsv1062107 |
chr21:46847759-46976682 |
Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
29 gene(s)
|
inside rSNPs
|
diseases
|
22 |
esv1822272 |
chr21:46848326-47038855 |
Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
31 gene(s)
|
inside rSNPs
|
diseases
|
23 |
nsv914049 |
chr21:46848589-46982335 |
Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
29 gene(s)
|
inside rSNPs
|
diseases
|
24 |
nsv1059083 |
chr21:46855788-46964378 |
Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
24 gene(s)
|
inside rSNPs
|
diseases
|
25 |
nsv914054 |
chr21:46859717-46964378 |
Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
24 gene(s)
|
inside rSNPs
|
diseases
|
26 |
esv1816583 |
chr21:46859717-46982335 |
Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
28 gene(s)
|
inside rSNPs
|
diseases
|
27 |
nsv1067396 |
chr21:46882278-46967996 |
Genic enhancers Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
23 gene(s)
|
inside rSNPs
|
diseases
|
28 |
nsv544490 |
chr21:46882278-46967996 |
Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
23 gene(s)
|
inside rSNPs
|
diseases
|
29 |
nsv1064667 |
chr21:46882647-46976682 |
Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
27 gene(s)
|
inside rSNPs
|
diseases
|
30 |
nsv1064108 |
chr21:46882647-46979776 |
Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
27 gene(s)
|
inside rSNPs
|
diseases
|
31 |
nsv914059 |
chr21:46883153-46964378 |
Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
23 gene(s)
|
inside rSNPs
|
diseases
|
32 |
nsv1056757 |
chr21:46886710-46970498 |
Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
23 gene(s)
|
inside rSNPs
|
diseases
|
33 |
nsv1065126 |
chr21:46886710-46976682 |
Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
27 gene(s)
|
inside rSNPs
|
diseases
|
34 |
nsv1060416 |
chr21:46886710-46979776 |
Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
27 gene(s)
|
inside rSNPs
|
diseases
|
35 |
nsv914060 |
chr21:46889666-47015661 |
Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
28 gene(s)
|
inside rSNPs
|
diseases
|
36 |
nsv1056986 |
chr21:46890759-46976682 |
Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
26 gene(s)
|
inside rSNPs
|
diseases
|
37 |
nsv1055493 |
chr21:46894021-46966180 |
Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
38 |
nsv1065095 |
chr21:46894736-46976682 |
Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
25 gene(s)
|
inside rSNPs
|
diseases
|
39 |
nsv1062243 |
chr21:46894736-46979776 |
Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
25 gene(s)
|
inside rSNPs
|
diseases
|
40 |
nsv914061 |
chr21:46897221-46964378 |
Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
41 |
nsv914062 |
chr21:46899119-46982335 |
Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
24 gene(s)
|
inside rSNPs
|
diseases
|
42 |
nsv1056939 |
chr21:46903412-46976682 |
Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
24 gene(s)
|
inside rSNPs
|
diseases
|
43 |
nsv1066039 |
chr21:46903412-46979776 |
Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
24 gene(s)
|
inside rSNPs
|
diseases
|
44 |
nsv914063 |
chr21:46903412-46982335 |
Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
24 gene(s)
|
inside rSNPs
|
diseases
|
45 |
nsv1056550 |
chr21:46905824-46976682 |
Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
22 gene(s)
|
inside rSNPs
|
diseases
|
46 |
nsv1063038 |
chr21:46905824-46979776 |
Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
22 gene(s)
|
inside rSNPs
|
diseases
|
47 |
nsv1059903 |
chr21:46906690-46976682 |
Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
22 gene(s)
|
inside rSNPs
|
diseases
|
48 |
nsv1058905 |
chr21:46906690-46979776 |
Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
22 gene(s)
|
inside rSNPs
|
diseases
|
49 |
nsv914064 |
chr21:46912386-46964378 |
Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
18 gene(s)
|
inside rSNPs
|
diseases
|
50 |
nsv914065 |
chr21:46912386-46982335 |
Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
22 gene(s)
|
inside rSNPs
|
diseases
|