| No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
| 1 |
nsv1002793 |
chr2:48771220-49466550 |
ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
| 2 |
nsv1004965 |
chr2:48796170-49443587 |
Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 3 |
nsv535684 |
chr2:48796170-49443587 |
Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 4 |
nsv498119 |
chr2:48808834-49422647 |
Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 5 |
nsv998864 |
chr2:49015878-49230000 |
Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
| 6 |
nsv1014434 |
chr2:49016279-49053699 |
Enhancers Weak transcription Strong transcription ZNF genes & repeats
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 7 |
nsv1011016 |
chr2:49031921-49053699 |
Weak transcription ZNF genes & repeats Enhancers Strong transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 8 |
esv2763577 |
chr2:49035249-49053711 |
Enhancers Weak transcription Strong transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 9 |
nsv518963 |
chr2:49038154-49052293 |
Weak transcription Enhancers
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
