| No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
| 1 |
nsv1005954 |
chr2:48692696-48905723 |
Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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
|
| 2 |
nsv535682 |
chr2:48692696-48905723 |
Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
9 gene(s)
|
inside rSNPs
|
diseases
|
| 3 |
nsv833981 |
chr2:48705444-48878179 |
ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 4 |
nsv581776 |
chr2:48763382-48913019 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 5 |
nsv1010494 |
chr2:48767055-49027310 |
Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
8 gene(s)
|
inside rSNPs
|
diseases
|
| 6 |
nsv1002793 |
chr2:48771220-49466550 |
ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
| 7 |
nsv1004965 |
chr2:48796170-49443587 |
Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 8 |
nsv535684 |
chr2:48796170-49443587 |
Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 9 |
nsv498119 |
chr2:48808834-49422647 |
Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
10 gene(s)
|
inside rSNPs
|
diseases
|
| 10 |
nsv833992 |
chr2:48814223-48998037 |
Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
6 gene(s)
|
inside rSNPs
|
diseases
|
| 11 |
nsv874004 |
chr2:48838955-48904550 |
ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
diseases
|
| 12 |
esv2762553 |
chr2:48843520-48863842 |
Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
2 gene(s)
|
inside rSNPs
|
diseases
|
rSNPs within LD-proxies of this variant (count:59)
