| No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
| 1 |
nsv498024 |
chr12:123994372-124459856 |
Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
63 gene(s)
|
inside rSNPs
|
diseases
|
| 2 |
esv1811815 |
chr12:124374716-124424636 |
Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 3 |
esv1832870 |
chr12:124374716-124424636 |
Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 4 |
nsv522321 |
chr12:124383950-124424636 |
Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
| 5 |
nsv560499 |
chr12:124389150-124396816 |
Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive region
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 6 |
nsv560500 |
chr12:124393697-124396754 |
Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 7 |
nsv560501 |
chr12:124393697-124396878 |
Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 8 |
esv3426888 |
chr12:124394824-124398372 |
Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS
|
Chromatin interactive region
|
4 gene(s)
|
inside rSNPs
|
diseases
|
| 9 |
esv3407433 |
chr12:124394999-124398147 |
Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription
|
Chromatin interactive region
|
4 gene(s)
|
inside rSNPs
|
diseases
|
| 10 |
esv14602 |
chr12:124395903-124397052 |
Weak transcription Enhancers
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 11 |
nsv560502 |
chr12:124395931-124396453 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 12 |
nsv560503 |
chr12:124395931-124396694 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 13 |
nsv560504 |
chr12:124395931-124396754 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 14 |
nsv560505 |
chr12:124395931-124396816 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 15 |
nsv560506 |
chr12:124395931-124396878 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 16 |
esv1804237 |
chr12:124395931-124399005 |
Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer
|
Chromatin interactive region
|
5 gene(s)
|
inside rSNPs
|
diseases
|
| 17 |
nsv560507 |
chr12:124395931-124400278 |
Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS
|
Chromatin interactive region
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 18 |
nsv560508 |
chr12:124395982-124396517 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 19 |
nsv560509 |
chr12:124395982-124396694 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 20 |
nsv560510 |
chr12:124395982-124396754 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 21 |
nsv560511 |
chr12:124395982-124396816 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 22 |
nsv560512 |
chr12:124395982-124396878 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 23 |
nsv560513 |
chr12:124395982-124399005 |
Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS
|
Chromatin interactive region
|
5 gene(s)
|
inside rSNPs
|
diseases
|
| 24 |
nsv560514 |
chr12:124395982-124399550 |
Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers
|
Chromatin interactive region
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 25 |
nsv560515 |
chr12:124395982-124400261 |
Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers
|
Chromatin interactive region
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 26 |
nsv560516 |
chr12:124396033-124396754 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 27 |
nsv560517 |
chr12:124396033-124396816 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 28 |
nsv560518 |
chr12:124396033-124396878 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 29 |
nsv560519 |
chr12:124396033-124399005 |
Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS
|
Chromatin interactive region
|
5 gene(s)
|
inside rSNPs
|
diseases
|
| 30 |
nsv560520 |
chr12:124396084-124396694 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 31 |
nsv560521 |
chr12:124396084-124396754 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 32 |
nsv560522 |
chr12:124396084-124396816 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 33 |
nsv560523 |
chr12:124396084-124396878 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 34 |
nsv560524 |
chr12:124396135-124396754 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 35 |
nsv560525 |
chr12:124396135-124396816 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 36 |
nsv560526 |
chr12:124396135-124396878 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 37 |
nsv560527 |
chr12:124396135-124399550 |
Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription
|
Chromatin interactive region
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 38 |
nsv560528 |
chr12:124396187-124396754 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 39 |
nsv560529 |
chr12:124396187-124396816 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 40 |
nsv560530 |
chr12:124396187-124396878 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 41 |
nsv560531 |
chr12:124396187-124400261 |
Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers
|
Chromatin interactive region
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 42 |
nsv560532 |
chr12:124396239-124396816 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 43 |
nsv560533 |
chr12:124396239-124396878 |
Weak transcription
|
Chromatin interactive region
|
n/a
|
inside rSNPs
|
diseases
|
| 44 |
nsv560534 |
chr12:124396239-124399550 |
Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS
|
Chromatin interactive region
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 45 |
nsv560535 |
chr12:124396294-124396878 |
Weak transcription
|
n/a
|
n/a
|
inside rSNPs
|
diseases
|