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Table 3 Bioinformatics analysis of variants in moderate LD (r2 > 0.5) with rs2566752

From: Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density

Variant

Relative positiona

LD with rs2566752 (r2)

GERP score

Promoter histone marks

Enhancer histone marks

DNAse

eQTL results

rs2026749

−3208

0.54

1.26

-

-

-

ND

rs2566752

0

1

−0.317

-

-

-

ND

rs36009202

+112

0.57

0.697

-

-

-

ND

rs75334237 (rs5774922)

+1570

0.53

0

-

-

-

ND

rs2033345

+2060

0.52

0.352

-

-

-

ND

rs2033344

+3701

0.51

−2.5

-

1 tissue

-

ND

rs57748040

+4196

0.51

−3.48

-

1 tissue

-

ND

rs12568456

+4789

0.51

−5.1

-

2 tissues

-

3 studies

rs72670452

+6143

0.51

3.95

5 tissues

12 tissues

5 tissues

ND

rs17130567

+7150

0.51

0.805

4 tissues

18 tissues

12 tissues

3 studies

rs1430738

+7432

0.6

−0.599

2 tissues

17 tissues

-

ND

  1. aRelative to rs2566752 (hg19); GERP, genomic evolutionary rate profiling; eQTL, expression quantitative trait locus; ND, no data