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. 2020 Oct 30;7:582793. doi: 10.3389/fmed.2020.582793

Table 1.

REFSEQ ID (rs), chromosomal location, occurrence, ethnicity, added/subtracted transcription factor (TF) prediction, and estimated expression outcome in the human angiotensin-converting enzyme 2 (ACE2) and transmembrane protease, serine 2 (TMPRSS2) proximal, and core promoter sequence.

Gene SNP, rs Location (GRCh38) Frequency in ethnic populations Modification in TFBS Added↑ Subtracted↓ Possible impact
Global Africans South Asia East Asia/Korea
Human rs4646114; C>T chrX:15601259 0.2–2.2% 5.0–7.2% 0% 0% NF-AT1, YY1**↑ c-Ets1** Elevated transcription
ACE2 rs536092258, C>A chrX:15601214 0.4% 0% 2.1% 0% PR-B**, PR-A**↑, GR-α* mRNA degradation
rs4646115, T>C chrX:15601146 0.1–0.6% 1.4–1.8% 0% 0% C/EBPβ↑ GR-β** Elevated transcription
rs370596467, T>C chrX:15600945 0.02–0.05% 0% 0.1–0.2% 0.1–0.4% RXR-α, VDR↑ XBP1 ↓ Transcription suppression
Human TMPRSS2 rs61299115, delGGCGCAGCGC CGCGGCGCAGCGC>CGC chr21:41508410-19 24.6–36.3% 29.7–32.5% 22.4% 0.9–1.8% 2X GCF ↓ Elevated transcription
rs11088551, A>G chr21:41508389 24.6–36.4% 29.7–32.6% 22.4% 1.0%-1.8% AP2α ↑ Elevated transcription
rs4303794, A>C chr21: 41508379 24.6–36.4% 29.7–32.6% 22.4% 1.0–1.9% PAX5 ↑ Elevated transcription

Only single-nucleotide polymorphisms (SNPs) above 1/1,000 occurrences are included.

*

pre-mature mRNA.

**

A TF that is less relevant due to location/functional constraints.