Table 1 Chromatin States and risk allele prediction of DHS-SNVs as cis-eQTLs of the target genes belonging to Xenobiotic metabolism and DNA repair pathway.

From: Identifying polymorphic cis-regulatory variants as risk markers for lung carcinogenesis and chemotherapy responses in tobacco smokers from eastern India

Gene symbol

SNP

p-value

Effect size

Tissue

Predicted risk allele

cancer type

Beta (β)

t-stat

p-value

Risk alleles in lung cancer

The Chromm States in the lung (25-core model)

[I] Xenobiotic metabolism genes

 SULT1A1

rs743590

2.00E−11

− 0.37

Lung

G

LUAD

− 0.2

− 4.02

6.68E−05

G

Active Enhancer 1

 SULT1A1

rs3760091

1.40E−12

0.36

Lung

G

No data

No data

No data

No data

No data

Promoter Upstream of TSS

 SULT1A1

rs112411210

0.012

0.38

Lung

A

No data

No data

No data

No data

No data

Active Enhancer 2

 GSTA1

rs10948723

4.00E−07

− 0.15

Lung

C

LUAD

0.35

8.04

6.92E−15

C

Quiescent

 SULT1A2

rs743590

5.50E−06

0.21

Lung

A

No data

No data

No data

No data

No data

Active Enhancer 1

 GSTA1

rs2207950

6.80E−05

0.12

Lung

A

LUAD

0.27

5.94

5.39E−09

A

Quiescent

 GSTA4

rs1802061

0.0015

− 0.15

Lung

T

No data

No data

No data

No data

No data

Quiescent

 ALDH3B1

rs3764821

0.0023

− 0.08

Lung

G

No data

No data

No data

No data

No data

Promoter Downstream of TSS 1

 SULT1A2

rs3760091

0.023

− 0.097

Lung

C

No data

No data

No data

No data

No data

Promoter Upstream of TSS

 GSTO1

rs12250592

0.027

0.13

Lung

C

No data

No data

No data

No data

No data

Promoter Downstream of TSS 1

 GSTO1

rs17883150

0.00085

0.078

Lung

G

No data

No data

No data

No data

No data

Primary DNase site

 GSTA4

rs4986947

0.0015

− 0.15

Lung

A

No data

No data

No data

No data

No data

Quiescent

 SULT1A2

rs13331376

0.0058

− 0.39

Lung

T

No data

No data

No data

No data

No data

Promoter Upstream of TSS

 GSTO1

rs7083465

0.027

0.13

Lung

G

No data

No data

No data

No data

No data

Primary H3K27ac possible Enhancer

 MAFG

rs35568625

0.042

− 0.043

Lung

C

No data

No data

No data

No data

No data

Quiescent

[II] DNA Repair genes

 RAD52

rs3748523

2.50E−28

− 0.39

Lung

G

No data

No data

No data

No data

No data

Active TSS

 EME2

rs238679

0.00017

− 0.11

Lung

G

No data

No data

No data

No data

No data

Quiescent

 EME2

rs1625393

0.0012

− 0.13

Lung

G

No data

No data

No data

No data

No data

Quiescent

 ERCC5

rs4150276

0.0009

0.094

Lung

T

No data

No data

No data

No data

No data

Quiescent

 MUTYH

rs2153608

0.012

− 0.091

Lung

G

No data

No data

No data

No data

No data

Weak Enhancer 2

 MUTYH

rs3219472

0.026

− 0.082

Lung

T

No data

No data

No data

No data

No data

Quiescent

 POLM

rs11764344

1.40E−11

− 0.38

Lung

C

No data

No data

No data

No data

No data

Quiescent

 PMS1

rs5742926

0.00013

0.15

Lung

G

LUSC

0.29

4.11

4.72E−05

G

Promoter Downstream of TSS 1

 MLH1

rs145070498

0.01

− 0.12

Lung

T

No data

No data

No data

No data

No data

Promoter Upstream of TSS

  1. Data from healthy cadaver lung tissue as obtained from the Genotype to Tissue Expression (GTEx) dataset. For lung cancer tissue, cis-eQTL mapping data was obtained from the PancanQTL webserver by analyzing the TCGA data. The chromatin states that data were obtained from HaploRegv4.1 linked to RoadMap Epigenomics, 2015 data.
  2. Normal lung tissue-specific cis-eQTL was calculated, and screening of the rSNVs as cis-eQTL was based on a p-value < 0.05*. The risk alleles from the lung cancer group match that of the predicted risk alleles in healthy individuals. FDR corrected p < 0.05*. TSS, transcription start site. Lung cancer cis-eQTLs are depicted in bold.
  3. Significant values are in bold.