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. 2023 Feb 20;12(2):147–154. doi: 10.1302/2046-3758.122.BJR-2022-0206.R1

Table I.

List of common regulatory single nucleotide polymorphisms and their target regulatory genes shared by both discovery and replication studies.

Gene Discovery Replication Regulatory elements
GWAS-rSNPs EAF Beta pdiscovery GWAS-rSNPs preplication
FAM3C rs7776725 0.259 0.186 1.21 × 10-25 rs7776725 1.80 × 10-12 CIRs TADs
PTPRZ1 rs7776725 0.259 0.186 1.21 × 10-25 rs7776725 1.80 × 10-12 CIRs TADs
CCDC122 rs9533094 0.404 -0.083 2.80 × 10-20 rs150081494 1.05 × 10-15 TADs
DCLK1 rs9533094 0.404 -0.083 2.80 × 10-20 rs191115702 1.52 × 10-16 TADs
TPTE2P5 rs9594738 0.403 -0.082 3.63 × 10-20 rs150081494 1.05 × 10-15 TADs
ENSG00000253603 rs7006553 0.385 0.078 9.99 × 10-18 rs140103265 1.80 × 10-12 CIRs
C11orf58 rs16931831 0.195 0.080 4.41 × 10-15 rs138547759 6.57 × 10-14 TADs
SOX6 rs16931831 0.195 0.080 4.41 × 10-15 rs138547759 6.57 × 10-14 TADs
ULK4 rs369145 0.451 -0.057 1.57 × 10-13 rs117982632 2.26 × 10-9 CIRs
rs10896328 0.238 -0.081 2.09 × 10-13 rs117982632 2.26 × 10-9 TADs
PPP6R3 rs12272917 0.237 -0.074 4.58 × 10-13 rs17149179 3.14 × 10-10 CIRs
rs12274114 0.255 -0.072 1.17 × 10-12 rs67446678 2.32 × 10-9 TFBRs
rs10896328 0.238 -0.081 2.09 × 10-13 rs72936524 5.15 × 10-10 TADs
CHKA rs12272917 0.237 -0.074 4.58 × 10-13 rs2186937 6.70 × 10-10 CIRs
CTTN rs4084149 0.237 -0.075 3.43 × 10-13 rs374538301 1.16 × 10-11 TADs
ELMO1 rs1357651 0.355 -0.068 3.75 × 10-13 rs147344245 2.23 × 10-14 TADs
AMPH rs1357651 0.355 -0.068 3.75 × 10-13 rs147344245 2.23 × 10-14 TADs
NDUFA3P2 rs12272917 0.237 -0.074 4.58 × 10-13 rs2186937 6.70 × 10-10 CIRs TADs
ENSG00000234985 rs7776725 0.259 0.072 6.85 × 10-13 rs7776725 1.80 × 10-12 CIRs TADs
GEMIN6 rs73215359 0.080 0.183 4.77 × 10-12 rs114805039 5.80 × 10-11 CIRs TFBRs
ADGB rs7740522 0.505 -0.053 1.23 × 10-11 rs115947573 9.21 × 10-24 TADs
SYNE1 rs7740522 0.505 -0.053 1.23 × 10-11 rs115947573 9.21 × 10-24 TADs
PLEKHG1 rs7740522 0.505 -0.053 1.23 × 10-11 rs145135839 4.74 × 10-17 TADs
CCDC170 rs7740522 0.505 -0.053 1.23 × 10-11 rs182402542 3.22 × 10-9 TADs
CBX5 rs3803042 0.417 -0.061 3.23 × 10-11 rs57292110 7.11 × 10-16 CIRs TFBRs
COG6 rs9533110 0.496 0.055 9.83 × 10-10 rs116613004 1.38 × 10-11 TADs
EPSTI1 rs9533110 0.496 0.055 9.83 × 10-10 rs554647317 4.39 × 10-8 TADs
ENSG00000254789 rs12797380 0.477 0.047 2.05 × 10-9 rs539468022 1.63 × 10-10 TADs
PSMA1 rs12797380 0.477 0.047 2.05 × 10-9 rs539468022 1.63 × 10-10 TADs
SUV420H1 rs7935347 0.153 -0.075 3.08 × 10-9 rs183720308 1.03 × 10-10 CIRs
RNU2-63P rs4528686 0.362 0.071 6.58 × 10-9 rs116151937 5.28 × 10-14 CIRs TFBRs
EPDR1 rs1376264 0.271 0.055 9.30 × 10-9 rs147344245 2.23 × 10-14 TADs
ANLN rs1376264 0.271 0.055 9.30 × 10-9 rs138651438 6.42 × 10-10 TADs
OTOG rs11024028 0.147 0.066 1.44 × 10-8 rs372278011 1.02 × 10-14 TADs
ENSG00000246225 rs11024028 0.147 0.066 1.44 × 10-8 rs77490678 3.00 × 10-16 TADs
USAH1C rs11024028 0.147 0.066 1.44 × 10-8 rs138547759 6.57 × 10-14 TADs
BDNF-AS rs11024028 0.147 0.066 1.44 × 10-8 rs187573374 3.33 × 10-17 TADs
PLEKHM1 rs34814687 0.053 0.085 1.75 × 10-8 rs144518135 1.56 × 10-15 TADs
CSAD rs4759021 0.248 0.053 4.04 × 10-8 rs556893559 8.42 × 10-12 CIRs

pdiscovery denotes the p-value of discovery GWAS-rSNPs; preplication denotes the p-value of replication GWAS-rSNPs.

CIRs, chromatin interactive regions; EAF, effect allele frequency; GWAS, genome-wide association study; rSNP, regulatory single nucleotide polymorphism; TADs, topologically associated domains; TFBRs, transcription factor binding regions.