| No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
| 1 |
nsv531545 |
chr21:45095397-45395904 |
Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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
|
49 gene(s)
|
inside rSNPs
|
diseases
|
| 2 |
nsv913882 |
chr21:45151874-45370715 |
Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
31 gene(s)
|
inside rSNPs
|
diseases
|
| 3 |
nsv834107 |
chr21:45155325-45294546 |
Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
29 gene(s)
|
inside rSNPs
|
diseases
|
| 4 |
esv33817 |
chr21:45169412-46031810 |
Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
121 gene(s)
|
inside rSNPs
|
diseases
|
| 5 |
nsv834108 |
chr21:45178037-45369641 |
Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
29 gene(s)
|
inside rSNPs
|
diseases
|
| 6 |
nsv459292 |
chr21:45218440-45269841 |
Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
16 gene(s)
|
inside rSNPs
|
diseases
|
| 7 |
nsv587719 |
chr21:45218440-45269841 |
Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
16 gene(s)
|
inside rSNPs
|
diseases
|
| 8 |
nsv1066284 |
chr21:45249549-45343314 |
Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 9 |
nsv3538 |
chr21:45267674-45297159 |
Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
6 gene(s)
|
inside rSNPs
|
diseases
|
