| 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 |
nsv587478 |
chr21:40243459-40275033 |
Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats
|
TF binding regionChromatin interactive regionlncRNA
|
6 gene(s)
|
inside rSNPs
|
diseases
|
