No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv1040850 |
chr12:57055011-57679209 |
Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
181 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv1043846 |
chr12:57323709-57377509 |
Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS
|
TF binding regionCpG islandChromatin interactive region
|
9 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv428590 |
chr12:57329214-57527358 |
Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
103 gene(s)
|
inside rSNPs
|
diseases
|
4 |
esv12940 |
chr12:57331182-57379580 |
Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers
|
TF binding regionCpG islandChromatin interactive region
|
10 gene(s)
|
inside rSNPs
|
diseases
|
5 |
nsv1051116 |
chr12:57331370-57380365 |
Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive region
|
11 gene(s)
|
inside rSNPs
|
diseases
|
6 |
esv10544 |
chr12:57331527-57352203 |
Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive region
|
7 gene(s)
|
inside rSNPs
|
diseases
|
7 |
nsv559019 |
chr12:57331741-57377509 |
Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive region
|
9 gene(s)
|
inside rSNPs
|
diseases
|
8 |
nsv899108 |
chr12:57331741-57377509 |
Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive region
|
9 gene(s)
|
inside rSNPs
|
diseases
|
9 |
nsv899109 |
chr12:57331741-57381259 |
Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive region
|
13 gene(s)
|
inside rSNPs
|
diseases
|
10 |
nsv436148 |
chr12:57331980-57377764 |
Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive region
|
9 gene(s)
|
inside rSNPs
|
diseases
|
11 |
esv3394817 |
chr12:57334133-57378642 |
Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive region
|
10 gene(s)
|
inside rSNPs
|
diseases
|
12 |
nsv512276 |
chr12:57334563-57379261 |
Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive region
|
10 gene(s)
|
inside rSNPs
|
diseases
|
13 |
esv3387082 |
chr12:57334915-57379407 |
Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive region
|
10 gene(s)
|
inside rSNPs
|
diseases
|
14 |
nsv975650 |
chr12:57335427-57376693 |
Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive region
|
7 gene(s)
|
inside rSNPs
|
diseases
|
15 |
esv2760274 |
chr12:57335481-57377509 |
Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive region
|
9 gene(s)
|
inside rSNPs
|
diseases
|
16 |
esv2761077 |
chr12:57335481-57377509 |
Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive region
|
9 gene(s)
|
inside rSNPs
|
diseases
|
17 |
nsv973962 |
chr12:57335927-57377803 |
Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers
|
TF binding regionCpG islandChromatin interactive region
|
9 gene(s)
|
inside rSNPs
|
diseases
|
18 |
nsv533666 |
chr12:57336297-57374437 |
Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS
|
TF binding regionCpG islandChromatin interactive region
|
7 gene(s)
|
inside rSNPs
|
diseases
|
19 |
nsv559020 |
chr12:57338716-57351562 |
Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS
|
Chromatin interactive region
|
6 gene(s)
|
inside rSNPs
|
diseases
|
20 |
esv3693122 |
chr12:57338716-57369910 |
Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS
|
TF binding regionCpG islandChromatin interactive region
|
7 gene(s)
|
inside rSNPs
|
diseases
|
21 |
nsv559021 |
chr12:57338716-57381259 |
Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS
|
TF binding regionCpG islandChromatin interactive region
|
13 gene(s)
|
inside rSNPs
|
diseases
|
22 |
esv1966572 |
chr12:57339290-57339292 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
23 |
esv1602471 |
chr12:57339292-57339294 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|