EPI-2021-0215 Suppl. Data

<b>Supplemental Figure
1. Differential allelic transcription factor
binding activities in peripheral blood mononuclear cells (PBMCs)</b>
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.
<b>Supplemental Figure 2. </b><b>Epigenomic
profiling identifies rs3024490 and linkage
disequilibrium (LD) single nucleotide polymorphisms (SNPs) as
candidate functional SNPs</b>
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