a. | |||||||
Gene Functional consequence | SNP | Position | Regulome DB score | eQTL (Monocytes) | Histone modification Chromatin state Blood cells | Protein binding K562 | Â |
SLC22A4 Intron 3 | rs156322 A/G | chr5:131653924 | 1f | SLC22A4 SLC22A5 | Quiescent/Low T, B and NK cells from PB Strong transcription Primary neutrophils, monocytes, MNC from PB Weak transcription Primary HSC Genic enhancers K562 | NA | Â |
SLC22A4 Intron 3 | rs272842 C/T | chr5:131656516 | 1f | SLC22A4 SLC22A5 | Quiescent/Low T, B and NK cells from PB Strong transcription Primary neutrophils and monocytes from PB Weak transcription Primary HSC, MNC from PB, K562 | NA | Â |
SLC22A4 Intron 5 | rs272889 C/T | chr5:131665377 | 1f | SLC22A4 SLC22A5 | Quiescent/Low Primary T, B and NK cells from PB Strong transcription MNC from PB Weak transcription T-helper naïve from PB, K562, primary HSC | NA |  |
SLC22A4 Intron 8 | rs272872 C/T | chr5:131675863 | 1f | SLC22A4 SLC22A5 | Quiescent/Low primary T, B and NK cells from PB Strong transcription MNC from PB Weak transcription T-helper naïve from PB, K562, primary HSC | NA |  |
SLC22A5 Intron 1 | rs2631363 C/T | chr5:131707094 | 2b | NA | NA | RBBP5, POLR3A | Â |
SLC22A5 Intron 1 | rs2631362 C/T | chr5:131707292 | 1f | SLC22A4 SLC22A5 | Enhancers MNC and T cells from PB Flanking active TSS K562 Weak transcription MNC from PB, primary HSC | RBBP5 | Â |
SLC22A5 Intron 1 | rs274570 A/G | chr5:131713225 | 1f | SLC22A4 SLC22A5 | Quiescent/Low Primary T cells from PB Weak transcription primary HSC, MNC from PB, K562 | NA | Â |
SLC22A5 Intron 2 | rs274567 A/G | chr5:131714408 | 1f | SLC22A4 SLC22A5 | Quiescent/Low T regulatory and helper cells, primary neutrophils from PB Strong transcription K562, primary T cells from PB, primary HSC G-CSF mobilized female and male Weak transcription primary HSC, primary T, B and NK cells from PB | NA | Â |
SLC22A5 Intron 2 | rs183898 C/G | chr5:131716901 | 3a | NA | Quiescent/Low Primary neutrophils from PB, T regulatory and helper cells from PB Weak Transcription B cells, MNC form PB, K562, primary HSC short term culture | NA | Â |
SLC22A5 Intron 3 | rs274559 C/T | chr5:131720069 | 1f | SLC22A4 SLC22A5 | Quiescent/Low primary neutrophils from PB, T regulatory and helper cells from PB Strong Transcription K562 Weak Transcription primary HSC, primary NK cells from PB, T and B cells from PB, MNC from PB | NA | Â |
b. | |||||||
Gene Functional consequence | SNP | Position | Regulome DB score | Histone modification Chromatin state Blood cells | Protein binding K562 | Motif (cell type) | Position-Weight Matrix for TF binding Ref. sequence of SNP |
SLC22A4 Promoter | rs460089 C/G | chr5:131629771 | 2a | NA | POLR2A, PHF8, HMGN3, UBTF, CTCF, ATF3, USF1, MAX, MYC, CBX3, UBTF, ZBTB7A, CCNT2, E2F6, IRF1, BCLAF1, ETS1 | MYC:MAX (K562) |
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SLC22A4 Intron 3 | rs270606 C/T | chr5:131650866 | 3a | NA | HDAC8 | STAT5A (NA) |
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Downstream from SLC22A4 (LOC553103 intron 3) | rs272868 C/G | chr5:131680750 | 3a | Quiescent/Low Primary T and B cells from PB Strong transcription MNC from PB Weak transcription T-helper naïve from PB, K562, primary HSC | STAT1, STAT2, CEBPB | MEOX2 (NA) |
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SLC22A5 NC transcript variant, UTR variant 5 prime | rs13180043 C/T | chr5:131705586 | 2b | NA | POLR2A, PHF8, TAF1, ETS1, IRF1, MYC, UBTF, RBBP5, SAP30, MAX, E2F6, NRF1, HMGN3, KDM5B, E2F1 | HIC1 (K562) |
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SLC22A5 NC transcript variant, UTR variant 5 primes | rs13180295 G/A | chr5:131705587 | 2b | NA | POLR2A, PHF8, TAF1, ETS1, IRF1, MYC, UBTF, RBBP5, SAP30, MAX, E2F6, NRF1, HMGN3, KDM5B, E2F1 | HIC1 (K562) |
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