No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
esv32853 |
chr1:227880116-228806209 |
Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
187 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv826908 |
chr1:227895386-228691100 |
Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
157 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv523935 |
chr1:228038124-228681749 |
Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
137 gene(s)
|
inside rSNPs
|
diseases
|
4 |
nsv873253 |
chr1:228231601-228537942 |
Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
91 gene(s)
|
inside rSNPs
|
diseases
|
5 |
nsv873254 |
chr1:228231601-228543800 |
Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
91 gene(s)
|
inside rSNPs
|
diseases
|
6 |
nsv873255 |
chr1:228254753-228684779 |
Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
133 gene(s)
|
inside rSNPs
|
diseases
|
7 |
nsv827019 |
chr1:228314167-228651020 |
Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
106 gene(s)
|
inside rSNPs
|
diseases
|
8 |
nsv1012078 |
chr1:228340876-228521843 |
Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
63 gene(s)
|
inside rSNPs
|
diseases
|
9 |
nsv535320 |
chr1:228340876-228521843 |
Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
63 gene(s)
|
inside rSNPs
|
diseases
|
10 |
nsv873264 |
chr1:228423647-228543800 |
Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
11 |
nsv873265 |
chr1:228434395-228525008 |
Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
12 |
nsv873266 |
chr1:228434395-228537942 |
Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
13 |
nsv873267 |
chr1:228434395-228585837 |
Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
22 gene(s)
|
inside rSNPs
|
diseases
|
14 |
nsv873268 |
chr1:228442663-228537942 |
Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
15 |
nsv873269 |
chr1:228442663-228543800 |
Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
16 |
nsv873270 |
chr1:228442663-228699477 |
Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
66 gene(s)
|
inside rSNPs
|
diseases
|
17 |
nsv1009891 |
chr1:228450763-228742676 |
Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
68 gene(s)
|
inside rSNPs
|
diseases
|
18 |
nsv873272 |
chr1:228450868-228538968 |
Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
19 |
nsv873273 |
chr1:228450868-228556788 |
Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
22 gene(s)
|
inside rSNPs
|
diseases
|
20 |
nsv873274 |
chr1:228450868-228585837 |
Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
22 gene(s)
|
inside rSNPs
|
diseases
|
21 |
esv1798020 |
chr1:228456147-228556788 |
Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
22 gene(s)
|
inside rSNPs
|
diseases
|
22 |
esv1818776 |
chr1:228456147-228556788 |
Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
22 gene(s)
|
inside rSNPs
|
diseases
|
23 |
nsv873275 |
chr1:228456147-228585837 |
Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
22 gene(s)
|
inside rSNPs
|
diseases
|
24 |
nsv517545 |
chr1:228456147-228685999 |
Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
66 gene(s)
|
inside rSNPs
|
diseases
|
25 |
nsv873276 |
chr1:228456943-228585837 |
Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
22 gene(s)
|
inside rSNPs
|
diseases
|
26 |
nsv1013500 |
chr1:228459134-228849601 |
Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
98 gene(s)
|
inside rSNPs
|
diseases
|
27 |
esv1808871 |
chr1:228464248-228529606 |
Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
18 gene(s)
|
inside rSNPs
|
diseases
|
28 |
nsv549293 |
chr1:228464248-228529606 |
Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
18 gene(s)
|
inside rSNPs
|
diseases
|
29 |
esv1850422 |
chr1:228464248-228556788 |
Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
30 |
nsv468260 |
chr1:228464248-228556788 |
ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
31 |
nsv549294 |
chr1:228464248-228556788 |
Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
32 |
nsv873277 |
chr1:228464248-228556788 |
Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
diseases
|
33 |
nsv873278 |
chr1:228464248-228585837 |
Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
21 gene(s)
|
inside rSNPs
|
diseases
|
34 |
nsv468271 |
chr1:228464248-228601638 |
Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
27 gene(s)
|
inside rSNPs
|
diseases
|
35 |
nsv468283 |
chr1:228464248-228601638 |
Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
27 gene(s)
|
inside rSNPs
|
diseases
|
36 |
nsv468294 |
chr1:228464248-228601638 |
Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
27 gene(s)
|
inside rSNPs
|
diseases
|
37 |
nsv549295 |
chr1:228464248-228601638 |
Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
27 gene(s)
|
inside rSNPs
|
diseases
|
38 |
nsv470780 |
chr1:228464248-228606965 |
Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
27 gene(s)
|
inside rSNPs
|
diseases
|
39 |
nsv873279 |
chr1:228494790-228681195 |
Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
65 gene(s)
|
inside rSNPs
|
diseases
|
40 |
nsv873280 |
chr1:228500627-228603029 |
Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
27 gene(s)
|
inside rSNPs
|
diseases
|
41 |
esv3426417 |
chr1:228505129-228509427 |
Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS
|
Chromatin interactive region
|
4 gene(s)
|
inside rSNPs
|
diseases
|
42 |
nsv873281 |
chr1:228505739-228656780 |
Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site
|
57 gene(s)
|
inside rSNPs
|
diseases
|