No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv1001435 |
chr2:50811382-51396921 |
Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
8 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv932208 |
chr2:50847100-51556715 |
Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
8 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv1002086 |
chr2:50912161-51405061 |
Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
7 gene(s)
|
inside rSNPs
|
diseases
|
4 |
nsv1008799 |
chr2:50934561-51464680 |
Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
7 gene(s)
|
inside rSNPs
|
diseases
|
5 |
nsv535698 |
chr2:50934561-51464680 |
Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
7 gene(s)
|
inside rSNPs
|
diseases
|
6 |
nsv532685 |
chr2:50964848-51400694 |
Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
6 gene(s)
|
inside rSNPs
|
diseases
|
7 |
nsv915824 |
chr2:50978466-51528474 |
Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
7 gene(s)
|
inside rSNPs
|
diseases
|
8 |
nsv581853 |
chr2:51013647-51554047 |
Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
7 gene(s)
|
inside rSNPs
|
diseases
|
9 |
nsv530389 |
chr2:51037104-51446873 |
Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
10 |
nsv1004335 |
chr2:51046996-51358191 |
Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
11 |
nsv535702 |
chr2:51046996-51358191 |
Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
12 |
nsv1014907 |
chr2:51074517-51532889 |
Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
13 |
nsv532687 |
chr2:51083410-51382872 |
Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
14 |
esv2830373 |
chr2:51083410-51426171 |
Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
15 |
nsv933039 |
chr2:51099263-51402457 |
Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
16 |
nsv1000086 |
chr2:51107014-51420538 |
ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
17 |
nsv874054 |
chr2:51108133-51451120 |
Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
18 |
nsv933220 |
chr2:51129464-51513892 |
Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
19 |
nsv1006515 |
chr2:51135645-51358191 |
Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
20 |
nsv535703 |
chr2:51135645-51358191 |
Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
21 |
nsv1005988 |
chr2:51135645-51500590 |
Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
22 |
nsv1007188 |
chr2:51135645-51821787 |
Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
23 |
nsv535704 |
chr2:51135645-51821787 |
Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
24 |
nsv1005168 |
chr2:51142848-51702008 |
Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
8 gene(s)
|
inside rSNPs
|
diseases
|
25 |
nsv535705 |
chr2:51142848-51702008 |
Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
8 gene(s)
|
inside rSNPs
|
diseases
|
26 |
nsv533262 |
chr2:51142849-51510961 |
Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
27 |
nsv932845 |
chr2:51149561-51462892 |
Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
28 |
nsv949438 |
chr2:51152019-51388866 |
Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
29 |
nsv948449 |
chr2:51152019-51735494 |
Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
30 |
nsv1001168 |
chr2:51166993-51396921 |
Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
31 |
nsv535707 |
chr2:51166993-51396921 |
Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
4 gene(s)
|
inside rSNPs
|
diseases
|
32 |
nsv915570 |
chr2:51180561-51358881 |
Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
33 |
nsv834014 |
chr2:51181846-51360537 |
Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
34 |
nsv948354 |
chr2:51188566-51521625 |
Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
35 |
nsv1001552 |
chr2:51225970-52139741 |
Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
10 gene(s)
|
inside rSNPs
|
diseases
|
36 |
nsv535708 |
chr2:51225970-52139741 |
Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
10 gene(s)
|
inside rSNPs
|
diseases
|
37 |
nsv1004239 |
chr2:51226169-51606258 |
Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
38 |
nsv535709 |
chr2:51226169-51606258 |
Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
5 gene(s)
|
inside rSNPs
|
diseases
|
39 |
nsv530504 |
chr2:51226170-51382872 |
Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
2 gene(s)
|
inside rSNPs
|
diseases
|
40 |
nsv491634 |
chr2:51226170-51556715 |
Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
41 |
nsv934205 |
chr2:51255441-51462892 |
Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
42 |
nsv934255 |
chr2:51255441-51513892 |
Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
43 |
nsv1012208 |
chr2:51266798-51415994 |
Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
diseases
|
44 |
nsv1009015 |
chr2:51271013-51396921 |
Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
diseases
|
45 |
nsv1011067 |
chr2:51271013-51500590 |
Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
1 gene(s)
|
inside rSNPs
|
diseases
|
46 |
nsv535710 |
chr2:51271013-51500590 |
Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
1 gene(s)
|
inside rSNPs
|
diseases
|
47 |
nsv581867 |
chr2:51279394-51397001 |
Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
diseases
|
48 |
nsv521850 |
chr2:51279394-51437416 |
Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
diseases
|
49 |
esv2757796 |
chr2:51281714-51365882 |
Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
diseases
|
50 |
esv2759048 |
chr2:51281714-51365882 |
Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS
|
Chromatin interactive regionlncRNA
|
n/a
|
inside rSNPs
|
diseases
|