Table 1 SNPs associated with susceptibility to PBC in the Japanese population in chromosome 11q23.1 by high-density association mapping.

From: rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

SNP_ID^a	GWAS or Imputation^b	Position (Chr.11)^c	P^d	OR^e	UCSC^f	Location
rs4938534	GWAS	111275133	1.25E−08	1.35	×	5′ of POU2AF1
rs12362038	Imputation	111270882	1.42E−08	1.35	×	5′ of POU2AF1
rs10891259	Imputation	111273686	1.93E−08	1.35	×	5′ of POU2AF1
rs4938541	Imputation	111280208	2.87E−08	1.34	△	5′ of POU2AF1
rs7952176	Imputation	111270228	3.78E−08	1.34	△	5′ of POU2AF1
rs1944926	Imputation	111287287	4.52E−08	1.34	△	5′ of POU2AF1
rs1123066	Imputation	111269435	6.17E−08	1.33	×	5′ of POU2AF1
rs4936432	Imputation	111269243	1.02E−07	1.33	×	5′ of POU2AF1
rs7952497	Imputation	111270281	1.23E−07	1.33	○	5′ of POU2AF1
rs4938518	GWAS	111267394	1.57E−07	1.32	×	5′ of POU2AF1
rs1944927	Imputation	111287404	3.41E−07	1.32	△	5′ of POU2AF1
rs10891261	Imputation	111276085	7.46E−07	1.31	×	5′ of POU2AF1
rs6589227	Imputation	111249367	1.39E−06	1.30	○	POU2AF1 intron 1
rs1944919	GWAS	111259876	1.64E−06	0.78	○	5′ of POU2AF1
rs11213871	Imputation	111261112	1.67E−06	1.29	×	5′ of POU2AF1
rs1806294	Imputation	111264941	1.73E−06	0.78	△	5′ of POU2AF1
rs6589226	Imputation	111249226	1.80E−06	1.30	○	POU2AF1 intron 1
rs1806397	GWAS	111264915	1.83E−06	0.78	△	5′ of POU2AF1
rs7947229	Imputation	111289354	1.93E−06	1.29	△	5′ of POU2AF1
rs4393359	Imputation	111294127	1.93E−06	1.30	×	5′ of POU2AF1
rs4489781	Imputation	111248177	2.01E−06	1.30	△	POU2AF1 intron 1
rs6589224	Imputation	111246832	2.17E−06	1.29	×	POU2AF1 intron 1
rs12799202	Imputation	111244756	2.48E−06	1.29	×	POU2AF1 intron 1
rs12799471	Imputation	111244633	2.75E−06	1.29	×	POU2AF1 intron 1
rs4622303	Imputation	111248514	2.76E−06	1.29	×	POU2AF1 intron 1
rs4938508	Imputation	111245343	2.84E−06	1.29	×	POU2AF1 intron 1
rs4938510	Imputation	111251476	2.85E−06	1.29	×	5′ of POU2AF1
rs10891264	Imputation	111293399	2.98E−06	0.78	×	5′ of POU2AF1
rs34563638	Imputation	111253801	3.22E−06	1.29	×	5′ of POU2AF1
rs4245182	Imputation	111245074	3.31E−06	1.29	×	POU2AF1 intron 1
rs1944918	Imputation	111261995	3.53E−06	0.78	×	5′ of POU2AF1
rs4245183	Imputation	111245186	3.65E−06	1.29	×	POU2AF1 intron 1
rs12293898	Imputation	111257068	3.70E−06	1.29	×	5′ of POU2AF1
rs7947717	Imputation	111289738	3.90E−06	1.29	×	5′ of POU2AF1
rs4356268	Imputation	111250650	3.94E−06	1.29	○	5′ of POU2AF1
rs12800418	Imputation	111257069	3.95E−06	1.29	×	5′ of POU2AF1
rs7116862	Imputation	111238440	4.02E−06	1.28	△	POU2AF1 intron 1
rs6589225	Imputation	111246861	4.02E−06	1.29	×	POU2AF1 intron 1
rs4529910	Imputation	111243102	4.13E−06	1.28	△	POU2AF1 intron 1
rs3802843	Imputation	111250214	4.19E−06	1.28	-	5′ of POU2AF1
rs7946785	Imputation	111305419	4.52E−06	1.29	×	5′ of POU2AF1
rs35646619	Imputation	111295769	5.00E−06	1.28	×	5′ of POU2AF1

^aSNPs with underlines were the final candidate primary functional variants.
^bGenotyped by our previous GWAS (Kawashima M et al. 2017) or the imputed genotypes by the high-density association mapping in the present study.
^cPosition of the SNPs in hg19.
^dP values calculated by Pearson's Chi-square test for the allelic model.
^eOdds ratio (OR) of minor allele from the two-by-two allele frequency table.
^fProbability of the functional damages checked by UCSC genome browser.

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Table 1 SNPs associated with susceptibility to PBC in the Japanese population in chromosome 11q23.1 by high-density association mapping.

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