No. |
Variant name |
Chromosome position |
Chromatin state |
Related regulatory elements |
Target genes |
Extended variants |
Associated traits |
1 |
rs530244561 |
chr21:47317075-47317076 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
2 |
rs542023936 |
chr21:47317083-47317084 |
Weak transcription Strong transcription
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
3 |
rs183783642 |
chr21:47317114-47317115 |
Weak transcription Strong transcription
|
CpG island
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
4 |
rs561160729 |
chr21:47317121-47317122 |
Weak transcription Strong transcription
|
CpG island
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
5 |
rs528571092 |
chr21:47317163-47317164 |
Weak transcription Strong transcription
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
6 |
rs547082643 |
chr21:47317168-47317169 |
Weak transcription Strong transcription
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
7 |
rs117149029 |
chr21:47317212-47317213 |
Strong transcription Weak transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
8 |
rs532390788 |
chr21:47317213-47317214 |
Strong transcription Weak transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
9 |
rs117601098 |
chr21:47317256-47317257 |
Strong transcription Weak transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
10 |
rs7280381 |
chr21:47317270-47317271 |
Strong transcription Weak transcription Enhancers
|
TF binding region
|
1 gene(s)
|
LD-proxies of rSNPOverlapped rCNV
|
n/a
|
11 |
rs530351262 |
chr21:47317274-47317275 |
Strong transcription Weak transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
12 |
rs116493585 |
chr21:47317290-47317291 |
Strong transcription Weak transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
13 |
rs369751125 |
chr21:47317331-47317332 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
14 |
rs188317959 |
chr21:47317396-47317397 |
Strong transcription Weak transcription Enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
15 |
rs558621322 |
chr21:47317402-47317403 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
16 |
rs193294185 |
chr21:47317423-47317424 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
17 |
rs112364447 |
chr21:47317457-47317458 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
18 |
rs556223104 |
chr21:47317490-47317491 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
19 |
rs149350663 |
chr21:47317515-47317516 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
TF binding region
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
20 |
rs542150077 |
chr21:47317532-47317533 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
21 |
rs146293101 |
chr21:47317535-47317536 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
22 |
rs572211076 |
chr21:47317549-47317550 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
23 |
rs540343437 |
chr21:47317598-47317599 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
24 |
rs540594498 |
chr21:47317665-47317666 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
25 |
rs532501976 |
chr21:47317684-47317685 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
26 |
rs544176474 |
chr21:47317703-47317704 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
27 |
rs142886968 |
chr21:47317704-47317705 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
28 |
rs530319697 |
chr21:47317712-47317713 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
29 |
rs113167383 |
chr21:47317765-47317766 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
30 |
rs78136848 |
chr21:47317768-47317769 |
Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
31 |
rs560303322 |
chr21:47317813-47317814 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
32 |
rs183858736 |
chr21:47317871-47317872 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
33 |
rs186816099 |
chr21:47317873-47317874 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
34 |
rs532612495 |
chr21:47317874-47317875 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
35 |
rs6518259 |
chr21:47317886-47317887 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
LD-proxies of rSNPOverlapped rCNV
|
n/a
|
36 |
rs191274950 |
chr21:47317888-47317889 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
37 |
rs34156106 |
chr21:47317913-47317914 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
38 |
rs556188225 |
chr21:47317920-47317921 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
39 |
rs73907907 |
chr21:47317921-47317922 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
LD-proxies of rSNPOverlapped rCNV
|
n/a
|
40 |
rs570101636 |
chr21:47317936-47317937 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
41 |
rs535343619 |
chr21:47317948-47317949 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
42 |
rs554058078 |
chr21:47317956-47317957 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
43 |
rs552457573 |
chr21:47317958-47317959 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
44 |
rs545961095 |
chr21:47317971-47317972 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
45 |
rs557557023 |
chr21:47317990-47317991 |
Strong transcription Weak transcription Enhancers
|
n/a
|
n/a
|
Overlapped CNVs
|
n/a
|
46 |
rs62211959 |
chr21:47318039-47318040 |
Weak transcription Strong transcription
|
lncRNA
|
n/a
|
Overlapped CNVs
|
mRNA abundance
|
47 |
rs148782929 |
chr21:47318053-47318054 |
Weak transcription Strong transcription
|
lncRNA
|
n/a
|
Overlapped CNVs
|
n/a
|
48 |
rs184239777 |
chr21:47318070-47318071 |
Weak transcription Strong transcription
|
lncRNA
|
n/a
|
Overlapped CNVs
|
n/a
|
49 |
rs530109282 |
chr21:47318084-47318085 |
Weak transcription Strong transcription
|
TF binding regionlncRNA
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|
50 |
rs542128718 |
chr21:47318096-47318097 |
Weak transcription Strong transcription
|
TF binding regionlncRNA
|
1 gene(s)
|
Overlapped CNVs
|
n/a
|