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Table 3 Regulatory variants (eQTLs) in LD with asthma-associated variants

From: Identification of deleterious and regulatory genomic variations in known asthma loci

eQTL

Affected Gene(s)

Tissue

Affected Binding Motif(s)

Asthma Variant(s) in LD

rs14078

NPPA

Lymphoblastoid

C/EBP

rs5065

rs17032120

UNC50

Monocytes

Whn

rs2278206

rs3769737

UNC50

Monocytes

Gm12892, Hsmm, Hsmmt, Huh7

rs2278206

rs17446058

UNC50

Monocytes

deltaEF1

rs2278206

rs5743563

TLR10, TLR1, TLR6

Lymphoblastoid

YY1

rs4129009, rs4833095

rs5743565

TLR10, TLR6, TLR1

Lymphoblastoid

GATA-4

rs4129009, rs4833095

rs7941648

RPS6KB2

Lymphoblastoid

CDP, BCL6, Foxd3, Sox7, Sox18, Sry, Sox5

rs1695, rs6591255

rs12654778

ADRB2

Lymphoblastoid

TP53

rs1042713

rs10039559

RAD50

Lymphoblastoid

C/EBP

rs11745587

rs204992

HLA-DQA1

Lymphoblastoid

CAC-bindingprotein

rs204993

rs3131294

HLA-DQA1, HLA-C, HLA-DQB1, HLA-DRB1, HLA-DRB5, HLA-DRA, ERG a , HCG27, HLA-C, LIMS1 a

Lymphoblastoid, Monocytes

AIRE

rs3135388

rs6928482

HLA-DQA1, HLA-DQA2

Lymphoblastoid

Zfp410

rs3104367, rs9272346, rs9273373

rs1063355

HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRA

Lymphoblastoid

Isgf3g

rs3104367, rs9272346, rs9273373

rs2076523

HLA-DQA2, HLA-DQB1, HLA-DQA2

Lymphoblastoid

Hepg2

rs9268516

rs2213585

HLA-DQB1, HLA-DRB1, HLA-DRB5, HLA-DRA, HLA-DQA1

Lymphoblastoid

Zfp410

rs3129890

rs6906021

POLR2A, TAF1, PAX5

Lymphoblastoid

Pit-1

rs3104367, rs9272346, rs9273373

rs7970524

HAL, LTA4H

Monocytes

AR

rs2540493

rs12429692

ALOX5AP

Monocytes

PU.1

rs10507391

rs3862469

DEXI, LOC642755 a

Monocytes

NF-E2, ZBRK1, MAFB

rs9923856

rs11642631

DEXI, LOC642755 a

Monocytes

VDR

rs9923856

rs12946510

KRT222P, MEd24, NR1D1, ORMDL3

Lymphoblastoid

FOXO1, IRF1, Srf, Elf3

rs907092, rs4795397, rs11655198, rs2305480, rs62067034, rs11078927, rs2290400, rs7216389, rs4794820, rs12450323

rs8076131

KRT222P, NR1D1, ORMDL3

Lymphoblastoid

Tcfe2a

rs2305480, rs11078927, rs7216389, rs907092, rs4795397, rs11655198, rs62067034, rs2290400, rs4794820, rs12450323

rs11557466

ORMDL3

Lymphoblastoid

HOXA5, REST, NRSE, HIF1

rs2305480, rs62067034, rs11078927, rs907092, rs4795397, rs11655198, rs2290400, rs7216389, rs4794820, rs12450323

rs8069732

TBKBP1

Monocytes

NF-E2, Fos, GCN4, hoxa9, Cdx-2, Hoxa11, Hoxc10, Hoxc11, Hoxc9, Hoxa9, Hoxb9

rs5918

  1. Definition of abbreviations: eQTL expression quantitative trait locus; LD linkage disequilibrium
  2. aTrans eQTL effect