Tropomyosin 1 genetically constrains in vitro hematopoiesis

Table 1 Penalized regression-based fine-mapping identifies eQTLs in established platelet trait GWAS loci that overlie GATA binding sites. Listed SNPs are within platelet trait GWAS LD blocks (EUR r² > 0.7), scored in the top 5% by our platelet trait model and by GWAVA [17], overlap canonical or near-canonical GATA binding sites, and are eQTLs for at least 1 gene [41] (GTEx V7). Associated gChromVAR posterior probabilities of being causal for platelet count trait association (PP PLT) are shown [1]. Genes in boldface have known hematopoietic function. SNP rsIDs and locations refer to hg19 genome

rsID	Chr	Pos (Mb)	Platelet score (percentile)	GWAVA score (percentile)	gChromVAR (PP PLT)	Nearest gene	eQTL gene(s)
rs11240368	1	205.1	1.12 (97th)	0.52 (95th)		DSTYK	CNTN2, TMEM81
rs3771535	2	70.0	0.94 (95th)	0.53 (95th)	0.01	ANXA4	GMCL1, SNRNP27
rs10180681	2	121.0	1.41 (98th)	0.63 (97th)	0.01	RALB	EPB41L5, *PTPN4* [42], *RALB* [43]
rs10180682	2	121.0	1.41 (98th)	0.64 (97th)	0.01	RALB	EPB41L5, *PTPN4* [42], *RALB* [43]
rs9646785	2	172.0	1.27 (98th)	0.58 (96th)		TLK1	GAD1, GORASP2
rs6771578	3	167.4	1.14 (97th)	0.60 (96th)	0.003	PDCD10	*PDCD10* [44], SERPINI1, WDR49
rs12652692	5	77.8	3.62 (99th)	0.57 (96th)	0.01	LHFPL2	LHFPL2, SCAMP1
rs72793280	5	131.6	2.73 (99th)	0.89 (99th)	0.001	P4HA2	ACSL6, *P4HA2* [45, 46], *PDLIM4* [47], SLC22A4, SLC22A5
rs1741820	6	122.8	1.75 (99th)	0.55 (96th)		HSF2	HSF2, PKIB
rs342293	7	106.4	1.80 (99th)	0.94 (99th)	0.99	CC71L	*PIK3CG* [12]*
rs13265995	8	56.7	1.75 (99th)	0.60 (96th)		TMEM68	*LYN* [48, 49], TGS, TMEM68
rs9704108	11	0.3	1.12 (97th)	0.85 (99th)	0.087	IFITM2	IFITM2
rs11071720	15	63.3	1.53 (98th)	0.58 (96th)	0.98	TPM1	APH1B, LACTB, RAB8B, *TPM1* [5]**
rs2316513	17	2.0	0.92 (95th)	0.54 (95th)	0.005	EST1A	DPH1, SMG6, *SRR* [50]
rs1654439	19	55.6	2.69 (99th)	0.58 (96th)	0.002	RDH13	*GP6* [49, 51], NLRP2, *RDH13* [52]

ISSN: 1741-7007