No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv948480 |
chr12:1776217-2284333 |
Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
39 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv898598 |
chr12:1939252-2215448 |
Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
15 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv1040370 |
chr12:2021395-2671017 |
Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
15 gene(s)
|
inside rSNPs
|
diseases
|
4 |
nsv948400 |
chr12:2022411-2601363 |
Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
15 gene(s)
|
inside rSNPs
|
diseases
|
5 |
nsv521838 |
chr12:2060580-2299680 |
Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
6 |
nsv1035885 |
chr12:2077660-2310157 |
Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
7 |
nsv541350 |
chr12:2077660-2310157 |
Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
8 |
nsv1038722 |
chr12:2085035-2308205 |
Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
9 |
nsv541351 |
chr12:2085035-2308205 |
Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
10 |
nsv898601 |
chr12:2124955-2215448 |
Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
7 gene(s)
|
inside rSNPs
|
diseases
|
11 |
nsv826183 |
chr12:2147469-2257818 |
Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
12 |
nsv898602 |
chr12:2149786-2223740 |
Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
13 |
nsv557009 |
chr12:2208215-2215725 |
Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
14 |
nsv557010 |
chr12:2208215-2216588 |
Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
15 |
nsv557011 |
chr12:2208390-2216958 |
Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
16 |
nsv898603 |
chr12:2208390-2268143 |
Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
17 |
esv998408 |
chr12:2212269-2219340 |
Weak transcription Enhancers Genic enhancers Bivalent Enhancer
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
18 |
esv3426014 |
chr12:2213966-2217239 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
19 |
nsv1053798 |
chr12:2214047-2253488 |
Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
20 |
esv19310 |
chr12:2214329-2216674 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
21 |
nsv557012 |
chr12:2214692-2215725 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
22 |
nsv557013 |
chr12:2214692-2215841 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
23 |
nsv557014 |
chr12:2214692-2216155 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
24 |
nsv557015 |
chr12:2214692-2216195 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
25 |
nsv557016 |
chr12:2214692-2216588 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
26 |
nsv557017 |
chr12:2214692-2216958 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
27 |
nsv557018 |
chr12:2214692-2223740 |
Weak transcription Enhancers Bivalent Enhancer Genic enhancers
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
28 |
nsv557019 |
chr12:2214853-2216051 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
29 |
nsv557020 |
chr12:2214853-2216195 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
30 |
nsv557021 |
chr12:2214853-2216389 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
31 |
nsv557022 |
chr12:2214853-2216473 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
32 |
nsv557023 |
chr12:2214853-2216588 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
33 |
nsv557024 |
chr12:2214853-2216958 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
34 |
esv1439292 |
chr12:2214860-2215179 |
Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
35 |
esv1009527 |
chr12:2214875-2215459 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
36 |
nsv557025 |
chr12:2214968-2216155 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
37 |
nsv557026 |
chr12:2214968-2216588 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
38 |
nsv557027 |
chr12:2214968-2216958 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
39 |
nsv557028 |
chr12:2215070-2216195 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
40 |
nsv557029 |
chr12:2215070-2216588 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
41 |
nsv557030 |
chr12:2215070-2216958 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|