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Chunk #7 — RESULTS — Cell-specific cis-eQTL are common, complex and directional in effects

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Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.
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Consistent with other reported eQTL analyses, we find the effect size and statistical significance of an eQTL varies as a function of distance from transcription start site (TSS) (Supplementary Figure 4). Notably, the density distribution of eSNPs demonstrating cell-specific effects on expression was more dispersed around the TSS in comparison to that of shared eQTL. This supports the premise that cell specific eQTL are enriched in more distant enhancer elements involved in cell-specific expression3.