Figure 5

Epigenomic data and TF motif analysis to identify allele-specific functional variants that regulate the expression of FUBP1 and RBA2A. LD plot showing R² of variants in LD with the lead SNPs. The y-axis represents the R² for variants in LD with the lead SNPs, and the x-axis represents the chromosomal positions based on the GRCh38/hg38 assembly. The lead SNPs are displayed as purple diamonds. The functional variants are displayed as red squares. The color gradient indicates pairwise LD’s strength (R²) according to 1000 Genomes European Reference. (a) NC_000008.11:g.60559280T>C is strongly linked with the lead SNP NC_000008.11:g.60515641C>T (R² = 0.95), overlapping an activated lung enhancer within the RAB2A gene. Transcription factor motif analysis indicates that the COVID-19 variant NC_000008.11:g.60559280T>C increases the binding affinity of a motif for the ELF1. (b) NC_000001.11:g.77984833C>A is in lung enhancer upstream of the FUBP1 gene. Transcription factor motif analysis indicates that the COVID-19 variant NC_000001.11:g.77984833C>A (negative strand) increases the binding affinity of a motif for the MEF2A.