| No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
| 1 |
esv1832950 |
chr2:172283513-172488111 |
Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
29 gene(s)
|
inside rSNPs
|
diseases
|
| 2 |
nsv997638 |
chr2:172442205-172560406 |
Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive region
|
13 gene(s)
|
inside rSNPs
|
diseases
|
| 3 |
nsv821788 |
chr2:172476049-172478198 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
| 4 |
esv2495598 |
chr2:172476519-172476527 |
Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
