No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv427903 |
chr12:9371593-9830668 |
Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
34 gene(s)
|
inside rSNPs
|
diseases
|
2 |
esv2758293 |
chr12:9371595-9923529 |
Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
3 |
esv2759878 |
chr12:9371595-9923529 |
Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
40 gene(s)
|
inside rSNPs
|
diseases
|
4 |
nsv898745 |
chr12:9529015-9716126 |
Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
11 gene(s)
|
inside rSNPs
|
diseases
|
5 |
esv1825533 |
chr12:9541542-9736409 |
Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
6 |
esv2568009 |
chr12:9550935-9731598 |
Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
7 |
nsv557357 |
chr12:9551375-9726469 |
Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
8 |
nsv557362 |
chr12:9555110-9720235 |
Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
9 |
esv1841111 |
chr12:9555375-9720235 |
Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
10 |
nsv557369 |
chr12:9555375-9720235 |
Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
11 |
esv1839054 |
chr12:9555375-9726469 |
Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
12 |
esv1840300 |
chr12:9555375-9730427 |
Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
13 |
esv1836556 |
chr12:9555805-9714330 |
Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
14 |
esv1835576 |
chr12:9555805-9720235 |
ZNF genes & repeats Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
15 |
nsv557379 |
chr12:9556034-9730427 |
Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
16 |
nsv557383 |
chr12:9556263-9720235 |
Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
17 |
nsv557386 |
chr12:9556935-9720235 |
Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
18 |
esv1834422 |
chr12:9557465-9716126 |
Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
19 |
esv1840809 |
chr12:9557465-9726469 |
Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
20 |
nsv557389 |
chr12:9557655-9714330 |
Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
21 |
nsv557391 |
chr12:9558318-9714330 |
Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
22 |
nsv557392 |
chr12:9558318-9720235 |
Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
23 |
nsv557393 |
chr12:9558318-9726469 |
Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
24 |
nsv557394 |
chr12:9558586-9714330 |
Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
25 |
nsv557395 |
chr12:9558745-9720235 |
Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
26 |
esv1821732 |
chr12:9560087-9830668 |
Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
18 gene(s)
|
inside rSNPs
|
diseases
|
27 |
esv1823760 |
chr12:9560087-9830668 |
Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
18 gene(s)
|
inside rSNPs
|
diseases
|
28 |
nsv428271 |
chr12:9560087-9830668 |
Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
18 gene(s)
|
inside rSNPs
|
diseases
|
29 |
esv1833598 |
chr12:9562714-9738070 |
Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
30 |
esv2760270 |
chr12:9575643-9734970 |
Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
8 gene(s)
|
inside rSNPs
|
diseases
|
31 |
esv2760977 |
chr12:9575676-9734970 |
Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
8 gene(s)
|
inside rSNPs
|
diseases
|
32 |
esv2757489 |
chr12:9583455-9810764 |
Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
17 gene(s)
|
inside rSNPs
|
diseases
|
33 |
nsv898746 |
chr12:9593540-9736279 |
Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
8 gene(s)
|
inside rSNPs
|
diseases
|
34 |
nsv1045445 |
chr12:9605163-9713662 |
Weak transcription Enhancers Strong transcription Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
35 |
esv1823386 |
chr12:9605283-9716126 |
Enhancers Weak transcription Active TSS Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
36 |
nsv557396 |
chr12:9605283-9716126 |
Enhancers Weak transcription Active TSS Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
37 |
nsv898747 |
chr12:9605283-9716126 |
Enhancers Weak transcription Active TSS Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
38 |
nsv557397 |
chr12:9605283-9738070 |
Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
39 |
nsv602 |
chr12:9609303-9748494 |
Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
40 |
nsv1040685 |
chr12:9610125-9713662 |
Weak transcription Enhancers Active TSS Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
41 |
nsv557398 |
chr12:9614021-9714330 |
Enhancers Weak transcription Active TSS Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
42 |
nsv557399 |
chr12:9614021-9720235 |
Enhancers Weak transcription Active TSS Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
43 |
nsv1042682 |
chr12:9617083-9713662 |
Weak transcription Enhancers Active TSS Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
44 |
nsv557400 |
chr12:9617083-9714330 |
Enhancers Weak transcription Strong transcription Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
45 |
nsv557401 |
chr12:9617083-9716126 |
Weak transcription Enhancers Strong transcription Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
46 |
nsv557402 |
chr12:9617083-9720235 |
Enhancers Weak transcription Strong transcription Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
47 |
nsv557403 |
chr12:9617083-9726469 |
Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
48 |
nsv898748 |
chr12:9617083-9738070 |
Weak transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
49 |
nsv557404 |
chr12:9618801-9716126 |
Enhancers Weak transcription Active TSS Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
50 |
esv1801819 |
chr12:9619681-9728768 |
Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|