Table I.
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.