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Table 2 eQTL analysis for the homozygous regions identified specific to autism across samples

From: Risk homozygous haplotype regions for autism identifies population-specific ten genes for numerous pathways

Sample type Category rsID SNP position RDB
rank*
RDB Score
**
Ref/Alt Bound proteins Affected autism genes (predicted)
Autism Trios using Affymetrix Mapping 250kNSp SNP Array A1 rs11104868 chr12:88828441 1d 0.43 G/A CBX3,FOS,BACH1,MYC,JUND,
MAFK,POU2F2,RBBP5 ,RUNX3, SMARCA4
CEP290
rs11104939 chr12:88932363 3a 0.65 T/C CEBPB KITLG
rs12292520 chr11:48086150 2b 0.51 G/T POLR2A PTPRJ-JAK2
rs17789481 chr11:48110042 2b 0.59 A/G EP300,FOXA1,GATA3,AR
Autism Trios using Affymetrix Mapping 250k Sty SNP Array A2 rs7078127 chr10:74847633 1f 0.55 A/C - RERE
rs11866251 chr16:48227861 3a 1.00 G/A EMSY EMSY
rs16945839 chr16:48160409 3a 0.78 C/T CTCF CHD8
Autism cases with Yoruba population genotype as Controls using Affymetrix Mapping 250kNSp SNP Array B1 rs1681625 chr11:48020542 2b 0.40 A/G HNF4A,ELF1,HNF4G,MYBL2,
NFIC,POLR2A,SP1,SREBF1,CDX2,
FOXA1,JUND,USF1,POLR2A,TBP
PTPRJ-JAK2, INS2
rs12292520 chr11:48086150 2b 0.51 G/T POLR2A
Autism cases with Yoruba population genotype as Controls using Affymetrix Mapping 250k Sty SNP Array B2 rs17051043 chr3:50693998 1d 0.94 C/T GATA2 EP300
rs2675835 chr3:50862740 1f 0.55 G/A - MAPK3
  1. *Threshold significant rank: 1a-3b;
  2. **Threshold score: 0.40 and above; score 1: most likely to be a regulatory variant
  3. rsID readseq identifier, SNP single nucleotide polymorphism, RDB Regulomedb, Ref/Alt reference/alternate