Table 1. Expression quantitative trait locus (eQTL) analysis results between SNPs and the expressions of 11 genes from the 108 “identified” genes.
SNP ID | Chr. | Location | Allele | Role | Association P-value | Gene 1 | Gene 2 | Implicated Gene | eQTL gene | Effect | Score | Target | Ref. |
rs4728142 | chr7 | 128573967 | A/G | unknown | 8.00E-19 | KCP | IRF5 | IRF5 | IRF5 | eqtl | 130.5 | Monocytes | [18] |
eqtl | 8.6 | LCLs | [20] | ||||||||||
rs1573649 | chr6 | 32731258 | C/T | 5′utr | 2.00E-10 | HLA-DQB2 | HLA-DQB2 | HLA-DQB2 | HLA-DQB2 | PP-eqtl | 0.1 | LCLs | [19] |
rs6903130 | chr6 | 32732210 | A/G | upstream | 4.43E-10 | HLA-DQB2 | HLA-DQB2 | HLA-DQB2 | HLA-DQB2 | PP-eqtl | 0 | LCLs | [19] |
rs16898264 | chr6 | 32677152 | A/G | unknown | 3.85E-09 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DQB1 | exonQTL | 4.4 | LCLs | [22] |
transcriptQTL | 4 | LCLs | [22] | ||||||||||
rs2647012 | chr6 | 32664458 | A/G | unknown | 1.27E-13 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DQB1 | exonQTL | 6.9 | LCLs | [22] |
transcriptQTL | 5.6 | LCLs | [22] | ||||||||||
rs2647050 | chr6 | 32669767 | C/T | unknown | 5.38E-09 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DQB1 | exonQTL | 4.4 | LCLs | [22] |
transcriptQTL | 4 | LCLs | [22] | ||||||||||
rs2856717 | chr6 | 32670308 | C/T | unknown | 1.03E-13 | HLA-DQB1 | HLA-DQA2 | N/A | HLA-DQB1 | eqtl | 33.9 | Monocytes | [18] |
exonQTL | 6.3 | LCLs | [22] | ||||||||||
transcriptQTL | 4.8 | LCLs | [22] | ||||||||||
rs2856718 | chr6 | 32670255 | A/G | unknown | 5.33E-09 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DQB1 | exonQTL | 4.4 | LCLs | [22] |
transcriptQTL | 4.1 | LCLs | [22] | ||||||||||
rs2856725 | chr6 | 32666738 | A/G | unknown | 1.11E-13 | HLA-DQB1 | HLA-DQA2 | N/A | HLA-DQB1 | exonQTL | 6.4 | LCLs | [22] |
transcriptQTL | 4.9 | LCLs | [22] | ||||||||||
rs2858305 | chr6 | 32670464 | A/C | unknown | 7.88E-14 | HLA-DQB1 | HLA-DQA2 | N/A | HLA-DQB1 | exonQTL | 6.8 | LCLs | [22] |
transcriptQTL | 5.3 | LCLs | [22] | ||||||||||
rs9275572 | chr6 | 32678999 | A/G | unknown | 6.41E-14 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DQB1 | eqtl | 24.3 | Monocytes | [18] |
exonQTL | 7.1 | LCLs | [22] | ||||||||||
transcriptQTL | 5.7 | LCLs | [22] | ||||||||||
rs9275596 | chr6 | 32681631 | C/T | unknown | 3.33E-16 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DQB1 | exonQTL | 5.3 | LCLs | [22] |
transcriptQTL | 4.2 | LCLs | [22] | ||||||||||
rs2187668 | chr6 | 32605884 | A/G | intron | 6.00E-28 | HLA-DQA1 | HLA-DQA1 | HLA-DQB2 | HLA-DQA1 | eqtl | 34.6 | Monocytes | [18] |
exonQTL | 4.3 | LCLs | [22] | ||||||||||
rs9271100 | chr6 | 32576478 | C/T | unknown | 1.00E-12 | HLA-DRB1 | HLA-DQA1 | N/A | HLA-DQA1 | exonQTL | 7.8 | LCLs | [22] |
transcriptQTL | 5.4 | LCLs | [22] | ||||||||||
rs3094061 | chr6 | 30321189 | G/T | unknown | 1.24E-09 | HLA-N | UBQLN1P1 | IER3 | HLA-H | eqtl | 33.6 | Monocytes | [18] |
rs9271100 | chr6 | 32576478 | C/T | unknown | 1.00E-12 | HLA-DRB1 | HLA-DQA1 | N/A | HLA-DRB1 | exonQTL | 15.2 | LCLs | [22] |
transcriptQTL | 10.5 | LCLs | [22] | ||||||||||
rs2647012 | chr6 | 32664458 | A/G | unknown | 1.27E-13 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DRA | transcriptQTL | 4.5 | LCLs | [22] |
rs7192 | chr6 | 32411646 | G/T | missense | 2.02E-10 | HLA-DRA | HLA-DRA | HLA-DRA | HLA-DRA | transcriptQTL | 9 | LCLs | [22] |
rs9268832 | chr6 | 32427789 | C/T | unknown | 1.53E-10 | HLA-DRB9 | HLA-DRB9 | HLA-DRA | HLA-DRA | transcriptQTL | 9.5 | LCLs | [22] |
rs9275224 | chr6 | 32659878 | A/G | unknown | 4.45E-12 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DRA | transcriptQTL | 4 | LCLs | [22] |
rs9275572 | chr6 | 32678999 | A/G | unknown | 6.41E-14 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DRA | eqtl | 40.1 | Monocytes | [18] |
transcriptQTL | 5.1 | LCLs | [22] | ||||||||||
rs9275596 | chr6 | 32681631 | C/T | unknown | 3.33E-16 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DRA | transcriptQTL | 4.7 | LCLs | [22] |
rs2647012 | chr6 | 32664458 | A/G | unknown | 1.27E-13 | HLA-DQB1 | HLA-DQA2 | HLA-DRA | HLA-DQA2 | transcriptQTL | 4.2 | LCLs | [22] |
rs2856725 | chr6 | 32666738 | A/G | unknown | 1.11E-13 | HLA-DQB1 | HLA-DQA2 | N/A | HLA-DQA2 | transcriptQTL | 4.2 | LCLs | [22] |
rs2858305 | chr6 | 32670464 | A/C | unknown | 7.88E-14 | HLA-DQB1 | HLA-DQA2 | N/A | HLA-DQA2 | transcriptQTL | 4.1 | LCLs | [22] |
rs9271100 | chr6 | 32576478 | C/T | unknown | 1.00E-12 | HLA-DRB1 | HLA-DQA1 | N/A | HLA-DRB1 | eqtl | 93 | LCLs | Database# |
rs13277113 | chr8 | 11349186 | A/G | unknown | 1.00E-10 | FAM167A | BLK | BLK | FAM167A | exonQTL | 6.4 | LCLs | [22] |
transcriptQTL | 6.5 | LCLs | [22] | ||||||||||
rs12176317 | chr6 | 26372786 | A/G | intron | 6.83E-10 | BTN3A2 | BTN3A2 | TRIM38 | BTN3A2 | eqtl | 21.4 | LCLs | [19] |
exonQTL | 4.8 | LCLs | [22] | ||||||||||
PP-eqtl | 0 | LCLs | [19] | ||||||||||
transcriptQTL | 10 | LCLs | [22] | ||||||||||
rs9379858 | chr6 | 26367689 | C/T | intron | 6.21E-10 | BTN3A2 | BTN3A2 | TRIM38 | BTN3A2 | eqtl | 21.4 | LCLs | 20] |
PP-eqtl | 0 | LCLs | 20] | ||||||||||
rs9379859 | chr6 | 26369549 | C/T | intron | 3.79E-10 | BTN3A2 | BTN3A2 | TRIM38 | BTN3A2 | eqtl | 21.4 | LCLs | 20] |
exonQTL | 8.4 | LCLs | [22] | ||||||||||
PP-eqtl | 0 | LCLs | 20] | ||||||||||
transcriptQTL | 10 | LCLs | [22] | ||||||||||
rs2618476 | chr8 | 11352541 | C/T | intron | 2.00E-08 | BLK | BLK | BLK | BLK | eqtl | 57.1 | LCLs | Database# |
Note: N/A:not available; “Score”: −log10 (P); LCLs: lymphoblastoid cell lines; transcript-QTL: transcript expression levels against SNPs; exon-QTL: quantified reads for known exons by RNA sequencing against SNPs; sQTL: splicing QTL; PP-eqtl: posterior probability-eqtl.
All the eqtls have cis-effects.
Database#: http://eqtl.uchicago.edu/cgi-bin/gbrowse/eqtl.
“Gene 1” and “Gene 2”are the nearby genes physically located at two sides of SNP.
“GRAIL P-value “and “Implicated gene” are the results from Gene Relationships Across Implicated Loci (GRAIL) analyses.