Table 5.
Functional annotation.
| Positiona | SNPs | R2 | Functionality | MAF (AMR) | eQTL | Chromatin statesb | Chromatin statesc | H3K4me1 | H3K4me3 | H3K27ac |
|---|---|---|---|---|---|---|---|---|---|---|
| chr6:52051033 | rs2275913 | 1 | Intergenic variant | 25% | — | Flank | Promoter | Enhancer | Promoter | Enhancer |
| chr6:52087034 | rs11966760 | 0.82 | Intergenic variant | 24% | PAQR8 | Enhancer | Promoter | Enhancer | Promoter | Enhancer |
| chr6:52056386 | rs16882180 | 0.8 | Intergenic variant | 25% | PAQR8 | — | — | Enhancer | Promoter | — |
Regulatory chromatin states and histone modifications for IL17A rs2275913 and SNPs in high LD (R2 ≥ 0.8).
Functional annotation from mononuclear peripheral blood specifically primary T helper 17 cells.
aAccording to National Center for Biotechnology Genome Reference Consortium NCBI build GRCh37.
bCore 15-state model.
cChromatin states: 25-state model using 12 imputed marks.
H3K4me1: Histone H3 lysine 4 mono-methylation, H3K4me3: Histone H3 lysine 4 tri-methylation, H3K27ac: Histone H3 lysine 27 acetylation.
MAF: Minor Allele Frequency. AMR: American.