No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv1062425 |
chr21:40172471-40380976 |
Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
47 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv544442 |
chr21:40172471-40380976 |
Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
47 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv587477 |
chr21:40228920-40512004 |
Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'
|
TF binding regionChromatin interactive regionlncRNA
|
35 gene(s)
|
inside rSNPs
|
diseases
|
4 |
esv2626960 |
chr21:40343696-40345353 |
Weak transcription Enhancers ZNF genes & repeats
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
5 |
esv1941131 |
chr21:40344129-40344818 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
6 |
esv3455221 |
chr21:40344184-40344719 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
7 |
esv3490925 |
chr21:40344186-40344695 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
8 |
esv3490926 |
chr21:40344210-40344722 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
9 |
esv3490927 |
chr21:40344211-40344712 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
10 |
esv4192 |
chr21:40344232-40344687 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
11 |
esv3455216 |
chr21:40344240-40344697 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
12 |
esv3455220 |
chr21:40344242-40344648 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
13 |
esv3455218 |
chr21:40344250-40344666 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
14 |
esv3455217 |
chr21:40344292-40344634 |
Weak transcription
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|