No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
nsv1058665 |
chr21:46719445-47634282 |
Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
91 gene(s)
|
inside rSNPs
|
diseases
|
2 |
nsv544486 |
chr21:46719445-47634282 |
Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA
|
91 gene(s)
|
inside rSNPs
|
diseases
|
3 |
nsv1059230 |
chr21:46956877-47907990 |
Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
94 gene(s)
|
inside rSNPs
|
n/a
|
4 |
nsv544491 |
chr21:46956877-47907990 |
Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
94 gene(s)
|
inside rSNPs
|
n/a
|
5 |
nsv1058472 |
chr21:47027823-47797326 |
Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
57 gene(s)
|
inside rSNPs
|
n/a
|
6 |
nsv544492 |
chr21:47027823-47797326 |
Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
57 gene(s)
|
inside rSNPs
|
n/a
|
7 |
nsv1065959 |
chr21:47188878-48091343 |
Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
102 gene(s)
|
inside rSNPs
|
n/a
|
8 |
nsv531580 |
chr21:47221774-48090317 |
Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
101 gene(s)
|
inside rSNPs
|
n/a
|
9 |
nsv914079 |
chr21:47243074-47650362 |
Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
35 gene(s)
|
inside rSNPs
|
n/a
|
10 |
nsv918103 |
chr21:47297067-48089510 |
Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
99 gene(s)
|
inside rSNPs
|
n/a
|
11 |
nsv869002 |
chr21:47297268-47963186 |
Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
73 gene(s)
|
inside rSNPs
|
n/a
|
12 |
nsv470910 |
chr21:47353775-48084988 |
Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
95 gene(s)
|
inside rSNPs
|
n/a
|
13 |
nsv1059118 |
chr21:47398331-48090457 |
Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
95 gene(s)
|
inside rSNPs
|
n/a
|
14 |
nsv544494 |
chr21:47398331-48090457 |
Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
95 gene(s)
|
inside rSNPs
|
n/a
|
15 |
nsv934264 |
chr21:47401083-48090317 |
Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
95 gene(s)
|
inside rSNPs
|
n/a
|
16 |
nsv1062861 |
chr21:47434057-47568806 |
Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
17 gene(s)
|
inside rSNPs
|
n/a
|
17 |
nsv914098 |
chr21:47467894-47619784 |
Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
19 gene(s)
|
inside rSNPs
|
n/a
|
18 |
nsv525728 |
chr21:47472641-47583506 |
Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
15 gene(s)
|
inside rSNPs
|
n/a
|
19 |
nsv1061087 |
chr21:47476088-47643219 |
Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
n/a
|
20 |
nsv1065749 |
chr21:47486147-47561797 |
Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
7 gene(s)
|
inside rSNPs
|
n/a
|
21 |
nsv1060978 |
chr21:47488073-47833640 |
Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site
|
42 gene(s)
|
inside rSNPs
|
n/a
|
22 |
nsv914099 |
chr21:47491014-47548011 |
Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
6 gene(s)
|
inside rSNPs
|
n/a
|
23 |
nsv914100 |
chr21:47491014-47582102 |
ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
14 gene(s)
|
inside rSNPs
|
n/a
|
24 |
nsv914101 |
chr21:47491014-47650362 |
Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription 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 regionlncRNA
|
21 gene(s)
|
inside rSNPs
|
n/a
|
25 |
nsv914102 |
chr21:47505084-47589099 |
Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
14 gene(s)
|
inside rSNPs
|
n/a
|
26 |
nsv914103 |
chr21:47507689-47589099 |
Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
14 gene(s)
|
inside rSNPs
|
n/a
|
27 |
nsv914104 |
chr21:47512330-47589099 |
Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
14 gene(s)
|
inside rSNPs
|
n/a
|
28 |
nsv587943 |
chr21:47514885-47546244 |
Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
3 gene(s)
|
inside rSNPs
|
n/a
|
29 |
nsv914105 |
chr21:47514885-47589099 |
Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
14 gene(s)
|
inside rSNPs
|
n/a
|
30 |
nsv914106 |
chr21:47514885-47603465 |
Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
15 gene(s)
|
inside rSNPs
|
n/a
|
31 |
nsv914107 |
chr21:47514885-47605335 |
Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
15 gene(s)
|
inside rSNPs
|
n/a
|
32 |
nsv914108 |
chr21:47514885-47609677 |
Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
16 gene(s)
|
inside rSNPs
|
n/a
|
33 |
nsv914109 |
chr21:47526240-47549613 |
Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive region
|
5 gene(s)
|
inside rSNPs
|
n/a
|
34 |
nsv914110 |
chr21:47526240-47582102 |
Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
35 |
nsv914111 |
chr21:47526240-47589099 |
Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
36 |
nsv914112 |
chr21:47526240-47589535 |
Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
37 |
nsv914113 |
chr21:47526240-47591770 |
Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
38 |
nsv914114 |
chr21:47526240-47605335 |
Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
14 gene(s)
|
inside rSNPs
|
n/a
|
39 |
nsv914115 |
chr21:47526240-47614469 |
Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
16 gene(s)
|
inside rSNPs
|
n/a
|
40 |
nsv470911 |
chr21:47535248-47591770 |
Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
41 |
nsv914116 |
chr21:47535248-47650362 |
Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
20 gene(s)
|
inside rSNPs
|
n/a
|
42 |
esv1816227 |
chr21:47536546-47546334 |
Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive region
|
2 gene(s)
|
inside rSNPs
|
n/a
|
43 |
nsv459311 |
chr21:47536546-47549613 |
Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS
|
TF binding regionCpG islandChromatin interactive region
|
5 gene(s)
|
inside rSNPs
|
n/a
|
44 |
nsv587944 |
chr21:47536546-47549613 |
Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive region
|
5 gene(s)
|
inside rSNPs
|
n/a
|
45 |
esv1840270 |
chr21:47536546-47589099 |
Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
46 |
nsv914117 |
chr21:47538960-47575372 |
Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
47 |
nsv914118 |
chr21:47538960-47582102 |
Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
48 |
nsv914119 |
chr21:47538960-47589099 |
Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|
49 |
nsv914120 |
chr21:47538960-47605335 |
Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
14 gene(s)
|
inside rSNPs
|
n/a
|
50 |
nsv517870 |
chr21:47542779-47575372 |
Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'
|
TF binding regionCpG islandChromatin interactive regionlncRNA
|
13 gene(s)
|
inside rSNPs
|
n/a
|