| No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
| 1 |
nsv948480 |
chr12:1776217-2284333 |
Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
39 gene(s)
|
inside rSNPs
|
diseases
|
| 2 |
nsv832306 |
chr12:1847726-2001308 |
Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
17 gene(s)
|
inside rSNPs
|
diseases
|
| 3 |
nsv898598 |
chr12:1939252-2215448 |
Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
15 gene(s)
|
inside rSNPs
|
diseases
|
| 4 |
nsv1046388 |
chr12:1964846-2034887 |
ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
| 5 |
nsv1043329 |
chr12:1986238-2034887 |
Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
| 6 |
nsv518786 |
chr12:1998044-2016322 |
Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription
|
TF binding regionCpG islandChromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
