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 |
nsv1059771 |
chr21:46561482-46830602 |
Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
51 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv544481 |
chr21:46561482-46830602 |
Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
51 gene(s)
|
inside rSNPs
|
diseases
|
4 |
nsv1063943 |
chr21:46571988-46819424 |
Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
47 gene(s)
|
inside rSNPs
|
diseases
|
5 |
nsv544482 |
chr21:46571988-46819424 |
Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
47 gene(s)
|
inside rSNPs
|
diseases
|
6 |
nsv1064859 |
chr21:46571988-46830602 |
Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
51 gene(s)
|
inside rSNPs
|
diseases
|
7 |
nsv544483 |
chr21:46571988-46830602 |
ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
51 gene(s)
|
inside rSNPs
|
diseases
|
8 |
nsv1061691 |
chr21:46572641-46831862 |
Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
51 gene(s)
|
inside rSNPs
|
diseases
|
9 |
nsv544484 |
chr21:46572641-46831862 |
Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
51 gene(s)
|
inside rSNPs
|
diseases
|
10 |
nsv587839 |
chr21:46580370-46837709 |
Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
51 gene(s)
|
inside rSNPs
|
diseases
|
11 |
nsv587840 |
chr21:46580370-46839904 |
Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
53 gene(s)
|
inside rSNPs
|
diseases
|
12 |
nsv916959 |
chr21:46585681-46831845 |
Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
51 gene(s)
|
inside rSNPs
|
diseases
|
13 |
nsv1063721 |
chr21:46610599-46907894 |
Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
58 gene(s)
|
inside rSNPs
|
diseases
|
14 |
nsv1059779 |
chr21:46611859-46891352 |
Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
55 gene(s)
|
inside rSNPs
|
diseases
|
15 |
nsv544485 |
chr21:46611859-46891352 |
Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
55 gene(s)
|
inside rSNPs
|
diseases
|
16 |
nsv1059805 |
chr21:46618210-46736943 |
Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
27 gene(s)
|
inside rSNPs
|
diseases
|
17 |
nsv913999 |
chr21:46636844-46765251 |
Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
43 gene(s)
|
inside rSNPs
|
diseases
|
18 |
nsv914000 |
chr21:46647078-46765251 |
Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
42 gene(s)
|
inside rSNPs
|
diseases
|
19 |
nsv914001 |
chr21:46647078-46944113 |
Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
57 gene(s)
|
inside rSNPs
|
diseases
|
20 |
nsv914002 |
chr21:46655638-46945024 |
Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
57 gene(s)
|
inside rSNPs
|
diseases
|
21 |
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
|
22 |
nsv914004 |
chr21:46670874-46736694 |
Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
25 gene(s)
|
inside rSNPs
|
diseases
|
23 |
nsv914005 |
chr21:46670874-46756700 |
Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
24 |
nsv914006 |
chr21:46670874-46788299 |
ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
42 gene(s)
|
inside rSNPs
|
diseases
|
25 |
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
|
26 |
nsv914007 |
chr21:46684517-46780249 |
Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
41 gene(s)
|
inside rSNPs
|
diseases
|
27 |
nsv914008 |
chr21:46684517-46792424 |
Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
43 gene(s)
|
inside rSNPs
|
diseases
|
28 |
nsv914009 |
chr21:46684517-46908355 |
Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
55 gene(s)
|
inside rSNPs
|
diseases
|
29 |
nsv1057661 |
chr21:46687476-46961041 |
Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
56 gene(s)
|
inside rSNPs
|
diseases
|
30 |
nsv914010 |
chr21:46695039-46775018 |
Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
41 gene(s)
|
inside rSNPs
|
diseases
|
31 |
nsv914011 |
chr21:46695039-46788299 |
Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
41 gene(s)
|
inside rSNPs
|
diseases
|
32 |
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
|
33 |
nsv531547 |
chr21:46698078-46850908 |
Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
51 gene(s)
|
inside rSNPs
|
diseases
|
34 |
nsv914013 |
chr21:46702506-46765251 |
Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
39 gene(s)
|
inside rSNPs
|
diseases
|
35 |
nsv914014 |
chr21:46702506-46780249 |
Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
36 |
nsv914015 |
chr21:46702506-46790203 |
Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
37 |
nsv914016 |
chr21:46715545-46788299 |
Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
33 gene(s)
|
inside rSNPs
|
diseases
|
38 |
nsv914017 |
chr21:46715545-46837709 |
Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
39 |
nsv1060369 |
chr21:46719445-46882338 |
Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
43 gene(s)
|
inside rSNPs
|
diseases
|
40 |
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
|
41 |
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
|
42 |
nsv459303 |
chr21:46720010-46848589 |
Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
42 gene(s)
|
inside rSNPs
|
diseases
|
43 |
nsv470909 |
chr21:46720010-46848589 |
Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
42 gene(s)
|
inside rSNPs
|
diseases
|
44 |
nsv587843 |
chr21:46720010-46848589 |
Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
42 gene(s)
|
inside rSNPs
|
diseases
|