| 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 |
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
|
| 3 |
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
|
| 4 |
nsv1059230 |
chr21:46956877-47907990 |
Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
94 gene(s)
|
inside rSNPs
|
n/a
|
| 5 |
nsv544491 |
chr21:46956877-47907990 |
Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
94 gene(s)
|
inside rSNPs
|
n/a
|
| 6 |
nsv1058472 |
chr21:47027823-47797326 |
Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
57 gene(s)
|
inside rSNPs
|
n/a
|
| 7 |
nsv544492 |
chr21:47027823-47797326 |
Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
57 gene(s)
|
inside rSNPs
|
n/a
|
| 8 |
nsv428043 |
chr21:47179244-47471971 |
Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
23 gene(s)
|
inside rSNPs
|
n/a
|
| 9 |
nsv1065959 |
chr21:47188878-48091343 |
Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
102 gene(s)
|
inside rSNPs
|
n/a
|
| 10 |
esv3378185 |
chr21:47217416-47217891 |
ZNF genes & repeats Weak transcription Active TSS
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
n/a
|
| 11 |
esv8212 |
chr21:47217418-47217573 |
Active TSS ZNF genes & repeats Weak transcription
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
n/a
|
| 12 |
esv2835 |
chr21:47217446-47217615 |
Active TSS ZNF genes & repeats Weak transcription
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
n/a
|
