EPI-2021-0215 Suppl. Data

Supplemental Figure
1. Differential allelic transcription factor
binding activities in peripheral blood mononuclear cells (PBMCs)

This figure depicts
electrophoretic mobility shift assays (EMSA) analysis meant to characterise
the binding properties of the risk allele vs. non-risk allele to nuclear
protein extract (NE) from PBMCs and interacting protein of NE and antibody,
respectively. EMSA were performed using 5`biotinylated probes corresponding
to location including rs3024490 (A, B, C, D and E), rs1518110 (F, G) and
rs1554286 (H). (A), (B), (C), (D) and (E) show no special binding for the
rs3024490 T-allele or G-allele with interacting protein of NE and anti-TBX21,
NE and anti-TBX15, NE and anti-MGA, NE and anti-TBX4 or NE and
anti-TBX5, respectively. (F) and (G) show no special binding for the
rs1518110 T-allele or G-allele with interacting protein of NE and anti-LMX1A or NE and anti-LMX1B, respectively.
(H) shows no binding for the rs1554286 T-allele or C-allele with interacting
protein of NE and anti-NFATC3.

Supplemental Figure 2. Epigenomic
profiling identifies rs3024490 and linkage
disequilibrium (LD) single nucleotide polymorphisms (SNPs) as
candidate functional SNPs

Associated
variants rs3024490 and LD SNPs (hg19 chr1:206944233-206946634) are
plotted with the ENCODE (top) and the Roadmap Epigenomics project (bottom) tracking for peripheral blood
mononuclear cells. Rs3024490 and LD SNPs were annotated as “enhancer SNPs”
based on a 25-state model predicted by histone-modified ChromHMM (top) and
H3K27ac and H3K4Me1 enhancer-specific enrichments (bottom).

Supplemental
Table 1. DNA sequence designed for primers of luciferase gene-reporter assay

Supplemental Table
2. The basic characteristics of all subjects

Supplemental Table
3. Variants linked to rs3024490 in 1000 GENOMES: phase_3: CHB

Supplemental Table 4. Variants
linked to rs3024490 in 1000 GENOMES: phase_3: CHS

Supplemental Table 5. A list of TFs from JASPAR predicted
to bind similar DNA motifs containing alleles

Supplemental
Table 6. A list of TFs predicted to bind only a similar DNA motif
containing rs3024490-G

Supplemental Table 7. A list
of TFs predicted to bind only a similar DNA motif containing rs1518110-T

Supplemental Table 8. A
list of TFs predicted to bind only a similar DNA motif containing rs1554286-T