No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv529328 |
chr12:29692414-30246209 |
Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
8 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv948495 |
chr12:30090771-30344772 |
ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
Chromatin interactive region
|
2 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv1042081 |
chr12:30147993-30344670 |
Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS
|
Chromatin interactive region
|
2 gene(s)
|
inside rSNPs
|
diseases
|
4 |
nsv541436 |
chr12:30147993-30344670 |
Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS
|
Chromatin interactive region
|
2 gene(s)
|
inside rSNPs
|
diseases
|
5 |
nsv557977 |
chr12:30224990-30241143 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
6 |
nsv557978 |
chr12:30228188-30241143 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
7 |
nsv557979 |
chr12:30228467-30241143 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
8 |
nsv557980 |
chr12:30229583-30243473 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
9 |
nsv557981 |
chr12:30229606-30243473 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
10 |
nsv557982 |
chr12:30233450-30242303 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
11 |
nsv557983 |
chr12:30233450-30243473 |
Enhancers Active TSS Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
12 |
nsv557984 |
chr12:30233898-30242877 |
Weak transcription Active TSS Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
13 |
nsv557985 |
chr12:30233898-30243473 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
14 |
esv2760246 |
chr12:30235279-30244326 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
15 |
esv2760866 |
chr12:30235279-30244780 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
16 |
esv3500452 |
chr12:30235285-30240083 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
17 |
esv3500463 |
chr12:30235285-30240083 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
18 |
esv3525816 |
chr12:30236535-30244533 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
19 |
esv3419598 |
chr12:30236885-30241083 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
20 |
nsv973986 |
chr12:30237049-30243977 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
21 |
esv3485162 |
chr12:30237112-30243673 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
22 |
nsv8932 |
chr12:30237115-30243678 |
Active TSS Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
23 |
esv3382930 |
chr12:30237138-30243655 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
24 |
esv3525817 |
chr12:30237159-30243608 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
25 |
esv3485140 |
chr12:30237163-30243636 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
26 |
esv3485151 |
chr12:30237168-30243639 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
27 |
esv3485129 |
chr12:30237179-30243592 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
28 |
esv18261 |
chr12:30237233-30243568 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
29 |
esv3485174 |
chr12:30237246-30243567 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
30 |
esv3525819 |
chr12:30237246-30243567 |
Enhancers Active TSS Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
31 |
nsv826296 |
chr12:30237254-30243482 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
32 |
nsv557986 |
chr12:30237344-30241370 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
33 |
nsv557987 |
chr12:30237344-30241486 |
Enhancers Active TSS Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
34 |
nsv557988 |
chr12:30237344-30241908 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
35 |
nsv557989 |
chr12:30237344-30242303 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
36 |
nsv557990 |
chr12:30237344-30242877 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
37 |
nsv557991 |
chr12:30237344-30243473 |
Active TSS Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
38 |
nsv557992 |
chr12:30237344-30243631 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
39 |
nsv438200 |
chr12:30237351-30241143 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
40 |
esv3584651 |
chr12:30237497-30243933 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
41 |
nsv442641 |
chr12:30237501-30243933 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
42 |
nsv826297 |
chr12:30237546-30243482 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
43 |
nsv514662 |
chr12:30237649-30243373 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
44 |
esv3500474 |
chr12:30237685-30244383 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
45 |
esv3500485 |
chr12:30237685-30244383 |
Weak transcription Enhancers Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
46 |
nsv557993 |
chr12:30237821-30241908 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
47 |
nsv557994 |
chr12:30237821-30242877 |
Enhancers Weak transcription Active TSS
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
48 |
nsv557995 |
chr12:30237821-30243473 |
Enhancers Active TSS Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
49 |
esv2829966 |
chr12:30237954-30241143 |
Enhancers Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|
50 |
esv2830227 |
chr12:30237954-30241143 |
Weak transcription Enhancers
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|