| No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
| 1 |
nsv1057956 |
chr21:40907707-41393396 |
Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
15 gene(s)
|
inside rSNPs
|
diseases
|
| 2 |
nsv544444 |
chr21:40907707-41393396 |
Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
15 gene(s)
|
inside rSNPs
|
diseases
|
| 3 |
nsv1065086 |
chr21:41034806-41429078 |
Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
9 gene(s)
|
inside rSNPs
|
diseases
|
| 4 |
nsv544445 |
chr21:41034806-41429078 |
Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
9 gene(s)
|
inside rSNPs
|
diseases
|
| 5 |
esv3385392 |
chr21:41346233-41346943 |
Bivalent Enhancer Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
n/a
|
| 6 |
esv3366141 |
chr21:41346258-41346543 |
Bivalent Enhancer Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
n/a
|
