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Table 3 List of 19 SNPs that were located at protein-binding sites and that have eQTLgene(s)

From: Enhancer variants associated with Alzheimer’s disease affect gene expression via chromatin looping

SNP

Chromosome

Base-pair position

Genomic region

Closest gene

eQTL

Enhancer Tissue Count

eQTL Gene Count

rs4038131

2

17775032

intron

VSNL1

not eQTL

12

1

rs75847378

2

40181517

intron

SLC8A1-AS1

eQTL

6

1

rs4663105

2

127891427

intergenic

BIN1

eQTL

5

1

rs6448799

4

11630049

intergenic

HS3ST1

eQTL

19

1

rs11168036

5

139707439

downstream

HBEGF

not eQTL

61

5

rs185968827

6

56708510

intron

DST

eQTL

2

2

rs1476679

7

100004446

intron

ZCWPW1

not eQTL

9

23

rs1532278

8

27466315

intron

CLU

eQTL

63

1

rs9331888

8

27468862

5′UTR

CLU

not eQTL

38

1

rs1582763

11

60021948

intergenic

MS4A4A

not eQTL

2

1

rs573521

11

102716980

upstream

MMP3

not eQTL

5

1

rs249153

12

95324389

intergenic

NDUFA12

not eQTL

1

1

rs56146971

14

91920101

downstream

PPP4R3A

not eQTL

11

1

rs7225151

17

5137047

intron

LOC100130950

eQTL

2

9

rs111816999

17

6882443

intergenic

ALOX12-AS1

not eQTL

1

2

rs117964204

17

48692082

intron

CACNA1G

not eQTL

10

1

rs4147929

19

1063443

intron

ABCA7

eQTL

28

3

rs439401

19

45414451

intergenic

APOE

eQTL

102

2

rs7364180

22

42218856

intron

CCDC134

not eQTL

64

25

  1. “eQTL” indicates whether the closest gene is eQTL gene or not. “Enhancer Tissue Count” indicates the number of tisseus or celll lines showed enhancer acitivity. “GWAS p-value” indicates p-value from GWAS Catalog database