Table 1 Variants showing FDR <5% in both L363 and MOLP8 cells, with MM risk alleles underlined.

From: Functional dissection of inherited non-coding variation influencing multiple myeloma risk

     

L363 cells

MOLP8 cells

plasma cell cis-eQTL

Locus

rsID

Ref

Alt

Gene

log2 score

P value

Q value

log2 score

P value

Q value

5q15

rs3777189

C

G

ELL2

1.210

1.2E-08

0.000

0.222

1.3E-03

0.041

concordant

7q36.1

rs78740585

G

A

SMARCD3

1.154

1.2E-08

0.000

1.053

1.2E-08

0.000

concordant

10p12.1

rs188468174

C

T

RUNX3

0.941

1.2E-08

0.000

1.217

1.2E-08

0.000

n/aa

17p11.2

rs4273077

A

G

TNFRSF13B

0.725

1.2E-08

0.000

0.694

1.2E-08

0.000

n/ab

3q26.2

rs11711621

C

T

TERC

0.570

1.2E-08

0.000

0.544

1.2E-08

0.000

n/a

6q21

rs3827644

G

C

ATG5

0.523

1.2E-08

0.000

0.617

1.2E-08

0.000

n/a

20q13.13

rs6066831

C

A

PREX1

−0.479

1.2E-08

0.000

−0.409

1.2E-08

0.000

discordant

17p11.2

rs4792800

A

G

TNFRSF13B

0.472

1.2E-08

0.000

0.274

9.8E-08

0.000

n/ab

6p22.3

rs13198600

A

G

JARID2

0.428

1.2E-08

0.000

0.265

1.5E-05

0.001

n/a

10p12.1

rs2790444

C

T

WAC

0.414

2.4E-08

0.000

0.963

1.2E-08

0.000

concordant

6q21

rs77791277

G

A

ATG5

0.347

2.4E-08

0.000

0.408

1.2E-08

0.000

n/a

7p15.3

rs4487645

C

A

CDCA7L

−0.345

1.2E-08

0.000

−0.159

1.5E-04

0.007

concordant

5q23.2

rs11960493

T

G

CEP120

0.330

2.4E-08

0.000

0.227

3.0E-04

0.012

concordant

5q23.2

rs11241694

T

C

CEP120

−0.317

1.2E-08

0.000

−0.258

4.9E-07

0.000

discordant

5q15

rs3777183

G

A

ELL2

0.306

2.4E-08

0.000

0.426

1.2E-08

0.000

concordant

5q15

rs3777182

T

A

ELL2

0.305

2.4E-08

0.000

0.243

2.5E-04

0.010

concordant

5q23.2

rs6881175

T

G

CEP120

−0.296

1.2E-08

0.000

−0.159

8.0E-04

0.026

discordant

6q21

rs3804329

A

G

ATG5

0.209

2.9E-06

0.000

0.279

2.5E-05

0.001

n/a

20q13.13

rs6066832

C

A

PREX1

0.197

2.4E-08

0.000

0.210

1.9E-06

0.000

concordant

17p11.2

rs4792798

G

A

TNFRSF13B

−0.186

1.9E-06

0.000

−0.198

6.6E-04

0.022

n/ab

5q23.2

rs890913

A

T

CEP120

−0.184

3.0E-05

0.000

−0.275

6.7E-06

0.000

discordant

6p22.3

rs139637361

A

G

JARID2

0.121

2.9E-05

0.000

0.224

4.0E-07

0.000

n/a

5q23.2

rs6884179

A

G

CEP120

−0.105

1.4E-03

0.012

−0.177

5.8E-04

0.021

discordant

  1. P- and Q-values are from MPRA score when integrating all barcodes that represent the variant (i.e., all three genomic windows and both strands). Concordant denotes a cis-eQTL in the same direction as the MPRA effect. Discordant denotes a cis-eQTL in the opposite direction. n/a indicates that no cis-eQTL was detected.
  2. aThe RUNX3 variant rs188468174, which associates with blood Ig levels, was included as a positive control because of its known luciferase activity in plasma cell lines.
  3. bThe TNFRSF13B risk allele showed a concordant cis-eQTL in total mature B-cells.
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