| No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
| 1 |
esv33638 |
chr2:54765256-55109455 |
Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
29 gene(s)
|
inside rSNPs
|
diseases
|
| 2 |
nsv582024 |
chr2:54894649-54999712 |
Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
14 gene(s)
|
inside rSNPs
|
diseases
|
| 3 |
nsv1005449 |
chr2:54938633-55129503 |
Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
diseases
|
| 4 |
nsv582025 |
chr2:54960680-54973834 |
Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats
|
Chromatin interactive region
|
1 gene(s)
|
inside rSNPs
|
diseases
|
