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.