No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv1056684 |
chr21:44539714-44886119 |
Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
109 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv913831 |
chr21:44563995-44931821 |
Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
118 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv1057726 |
chr21:44711850-44957303 |
Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
117 gene(s)
|
inside rSNPs
|
diseases
|
4 |
nsv544466 |
chr21:44711850-44957303 |
Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
117 gene(s)
|
inside rSNPs
|
diseases
|
5 |
nsv913837 |
chr21:44731138-44853859 |
Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
64 gene(s)
|
inside rSNPs
|
diseases
|
6 |
nsv913838 |
chr21:44740134-44931821 |
Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
111 gene(s)
|
inside rSNPs
|
diseases
|
7 |
nsv913839 |
chr21:44750200-44931821 |
Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
111 gene(s)
|
inside rSNPs
|
diseases
|
8 |
nsv913841 |
chr21:44761874-44853859 |
Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
63 gene(s)
|
inside rSNPs
|
diseases
|
9 |
nsv913844 |
chr21:44779680-44875495 |
Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
82 gene(s)
|
inside rSNPs
|
diseases
|
10 |
nsv913845 |
chr21:44781356-44874702 |
Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
82 gene(s)
|
inside rSNPs
|
diseases
|
11 |
nsv470901 |
chr21:44781356-44884252 |
Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
90 gene(s)
|
inside rSNPs
|
diseases
|
12 |
nsv913847 |
chr21:44792003-44931821 |
Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
107 gene(s)
|
inside rSNPs
|
diseases
|
13 |
nsv913848 |
chr21:44817248-44848070 |
Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
50 gene(s)
|
inside rSNPs
|
diseases
|
14 |
nsv913849 |
chr21:44817248-44925334 |
Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
97 gene(s)
|
inside rSNPs
|
diseases
|
15 |
esv1795905 |
chr21:44820999-44837533 |
Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS
|
Chromatin interactive regionlncRNAmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
16 |
esv1819475 |
chr21:44820999-44837533 |
Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS
|
Chromatin interactive regionlncRNAmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
17 |
esv1851649 |
chr21:44820999-44837533 |
Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS
|
Chromatin interactive regionlncRNAmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
18 |
nsv820461 |
chr21:44821113-44838810 |
Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats
|
Chromatin interactive regionlncRNAmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
19 |
esv1793470 |
chr21:44821199-44838738 |
Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionlncRNAmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
20 |
esv1799259 |
chr21:44821199-44838738 |
Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS
|
Chromatin interactive regionlncRNAmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
21 |
esv1813433 |
chr21:44821199-44838738 |
Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
Chromatin interactive regionlncRNAmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
22 |
esv1830848 |
chr21:44821199-44838738 |
Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats
|
Chromatin interactive regionlncRNAmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
23 |
esv1849312 |
chr21:44821199-44838738 |
Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS
|
Chromatin interactive regionlncRNAmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
24 |
esv1818512 |
chr21:44821199-44841225 |
Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats
|
Chromatin interactive regionlncRNAmiRNA target site
|
19 gene(s)
|
inside rSNPs
|
diseases
|
25 |
esv1845794 |
chr21:44821199-44841225 |
Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS
|
Chromatin interactive regionlncRNAmiRNA target site
|
19 gene(s)
|
inside rSNPs
|
diseases
|
26 |
esv32887 |
chr21:44821225-44839128 |
Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh
|
Chromatin interactive regionlncRNAmiRNA target site
|
15 gene(s)
|
inside rSNPs
|
diseases
|
27 |
nsv828883 |
chr21:44821563-44838810 |
Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS
|
Chromatin interactive regionlncRNAmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
28 |
esv1823170 |
chr21:44821595-44837766 |
Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionlncRNAmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
29 |
nsv459280 |
chr21:44821867-44839682 |
Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
15 gene(s)
|
inside rSNPs
|
diseases
|
30 |
nsv587669 |
chr21:44821867-44839682 |
Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh
|
Chromatin interactive regionmiRNA target site
|
15 gene(s)
|
inside rSNPs
|
diseases
|
31 |
nsv913850 |
chr21:44821867-44839682 |
Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
Chromatin interactive regionmiRNA target site
|
15 gene(s)
|
inside rSNPs
|
diseases
|
32 |
nsv470902 |
chr21:44821867-44848069 |
Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionmiRNA target site
|
48 gene(s)
|
inside rSNPs
|
diseases
|
33 |
nsv913851 |
chr21:44821867-44848070 |
Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionmiRNA target site
|
48 gene(s)
|
inside rSNPs
|
diseases
|
34 |
esv2760703 |
chr21:44822257-44842623 |
Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionmiRNA target site
|
21 gene(s)
|
inside rSNPs
|
diseases
|
35 |
esv1826084 |
chr21:44822330-44837533 |
Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
36 |
esv1826004 |
chr21:44822504-44838738 |
Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS
|
Chromatin interactive regionmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
37 |
esv10863 |
chr21:44822523-44838545 |
Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
38 |
nsv828884 |
chr21:44822727-44837377 |
Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
39 |
nsv828885 |
chr21:44822727-44837810 |
Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
12 gene(s)
|
inside rSNPs
|
diseases
|
40 |
nsv828887 |
chr21:44822727-44838406 |
Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
41 |
nsv828888 |
chr21:44822727-44838414 |
Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS
|
Chromatin interactive regionmiRNA target site
|
13 gene(s)
|
inside rSNPs
|
diseases
|
42 |
esv1802570 |
chr21:44822751-44837533 |
Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
43 |
esv1809807 |
chr21:44822751-44837533 |
Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
44 |
esv1813478 |
chr21:44822751-44837533 |
Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS
|
Chromatin interactive regionmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
45 |
esv1828738 |
chr21:44822751-44837533 |
Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS
|
Chromatin interactive regionmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
46 |
esv1850417 |
chr21:44822751-44837533 |
Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS
|
Chromatin interactive regionmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
47 |
esv1819136 |
chr21:44822751-44838938 |
Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
Chromatin interactive regionmiRNA target site
|
15 gene(s)
|
inside rSNPs
|
diseases
|
48 |
nsv828890 |
chr21:44822857-44837948 |
Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
12 gene(s)
|
inside rSNPs
|
diseases
|
49 |
nsv828893 |
chr21:44822920-44837710 |
Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats
|
Chromatin interactive regionmiRNA target site
|
11 gene(s)
|
inside rSNPs
|
diseases
|
50 |
nsv828894 |
chr21:44822920-44837810 |
Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS
|
Chromatin interactive regionmiRNA target site
|
12 gene(s)
|
inside rSNPs
|
diseases
|