No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
rs551775873 |
chr21:40030396-40030397 |
Bivalent Enhancer Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
2 |
rs538199024 |
chr21:40030403-40030404 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
3 |
rs568086445 |
chr21:40030404-40030405 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
4 |
rs558027958 |
chr21:40030406-40030407 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
5 |
rs145470153 |
chr21:40030415-40030416 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
6 |
rs73446348 |
chr21:40030429-40030430 |
Active TSS Weak transcription
|
n/a
|
n/a
|
LD-proxies of rSNPOverlapped rCNV
|
n/a
|
7 |
rs4143428 |
chr21:40030582-40030583 |
Active TSS Weak transcription
|
n/a
|
n/a
|
LD-proxies of rSNPOverlapped rCNV
|
n/a
|
8 |
rs574078328 |
chr21:40030608-40030609 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
9 |
rs371156792 |
chr21:40030627-40030628 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
10 |
rs561639561 |
chr21:40030649-40030650 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
11 |
rs543091691 |
chr21:40030673-40030674 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
12 |
rs561773050 |
chr21:40030692-40030693 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
13 |
rs530727198 |
chr21:40030728-40030729 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
14 |
rs185983247 |
chr21:40030747-40030748 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
15 |
rs115389376 |
chr21:40030872-40030873 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
16 |
rs138019685 |
chr21:40030901-40030902 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
17 |
rs546638000 |
chr21:40030933-40030934 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
18 |
rs566444784 |
chr21:40030994-40030995 |
Active TSS Weak transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
19 |
rs529015492 |
chr21:40031065-40031066 |
Active TSS Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
20 |
rs1015748 |
chr21:40031111-40031112 |
Active TSS Enhancers
|
n/a
|
n/a
|
LD-proxies of rSNPOverlapped rCNV
|
n/a
|
21 |
rs149544231 |
chr21:40031128-40031129 |
Active TSS Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
22 |
rs538437667 |
chr21:40031194-40031195 |
Active TSS Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
23 |
rs190590315 |
chr21:40031259-40031260 |
Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
24 |
rs571624309 |
chr21:40031269-40031270 |
Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
25 |
rs574894407 |
chr21:40031277-40031278 |
Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
26 |
rs370062974 |
chr21:40031287-40031288 |
Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
27 |
rs182321362 |
chr21:40031313-40031314 |
Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
28 |
rs34638227 |
chr21:40031314-40031315 |
Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
29 |
rs573967995 |
chr21:40031412-40031413 |
Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
30 |
rs114965716 |
chr21:40031432-40031433 |
Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
31 |
rs186002293 |
chr21:40031444-40031445 |
Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
32 |
rs556619697 |
chr21:40031449-40031450 |
Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
33 |
rs374860284 |
chr21:40031459-40031460 |
Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
34 |
rs544432326 |
chr21:40031578-40031579 |
Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
35 |
rs143177959 |
chr21:40031595-40031596 |
Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
36 |
rs148205077 |
chr21:40031647-40031648 |
Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
37 |
rs540519659 |
chr21:40031737-40031738 |
Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
38 |
rs559935939 |
chr21:40031845-40031846 |
Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
39 |
rs528879895 |
chr21:40031847-40031848 |
Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
40 |
rs75897329 |
chr21:40031896-40031897 |
Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
41 |
rs76590500 |
chr21:40031901-40031902 |
Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
42 |
rs78389852 |
chr21:40031902-40031903 |
Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
43 |
rs9647180 |
chr21:40031924-40031925 |
Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS
|
n/a
|
n/a
|
LD-proxies of rSNPOverlapped rCNV
|
n/a
|
44 |
rs72394651 |
chr21:40031967-40031968 |
Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
45 |
rs376955072 |
chr21:40031968-40031969 |
Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
46 |
rs571492163 |
chr21:40032006-40032007 |
Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
47 |
rs115101815 |
chr21:40032009-40032010 |
Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
48 |
rs554039131 |
chr21:40032011-40032012 |
Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
49 |
rs567816289 |
chr21:40032019-40032020 |
Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
50 |
rs543997898 |
chr21:40032040-40032041 |
Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|