ESM Table 7 Result of the association test of 50 SNPs around a landmark SNP375

SNP name / db SNP
rs ID / Genea
symbol / Location / Public position / Allele
major/ minor / MAF / p valueb / Odds ratio
(95% CI)
Case / Control
SNP366 / rs171248 / SLC22A14 / 3' downstream / 38,338,397 / T/C / 0.40 / 0.40 / 0.61 / -
A-01 / rs196377 / XYLB / Intron15 / 38,393,760 / G/C / 0.22 / 0.22 / 0.85 / -
LD block with 40 SNPs / A-02 / rs6807940 / - / Intergenic / 38,432,283 / G/C / 0.45 / 0.43 / 0.21 / -
A-03 / rs7373816 / ACVR2B / 5' up stream / 38,465,447 / C/A / 0.31 / 0.33 / 0.19 / -
SNP367 / rs762317 / ACVR2B / Intron1 / 38,472,663 / A/G / 0.31 / 0.33 / 0.26 / -
SNP368 / rs2268753 / ACVR2B / Intron1 / 38,475,193 / C/T / 0.31 / 0.33 / 0.29 / -
SNP369 / rs2268757 / ACVR2B / Intron1 / 38,480,857 / C/T / 0.31 / 0.32 / 0.24 / -
A-04 / rs2276540 / ACVR2B / Intron1 / 38,487,511 / G/A / 0.31 / 0.33 / 0.21 / -
A-05 / rs2268759 / ACVR2B / Intron1 / 38,489,331 / G/A / 0.42 / 0.43 / 0.52 / -
SNP370 / rs762318 / ACVR2B / Intron1 / 38,491,373 / C/A / 0.43 / 0.45 / 0.40 / -
A-06 / rs4407366 / ACVR2B / Intron7 / 38,496,429 / T/C / 0.46 / 0.43 / 0.16 / -
SNP371 / rs928813 / ACVR2B / 3' down stream / 38,503,541 / G/T / 0.31 / 0.33 / 0.27 / -
SNP372 / rs6599205 / ACVR2B / 3' down stream / 38,504,444 / G/C / 0.46 / 0.43 / 0.14 / -
A-07 / rs7374458 / - / Intergenic / 38,506,221 / T/G / 0.44 / 0.45 / 0.56 / -
SNP373 / rs1058945 / ENDOGL1 / 5' upstream / 38,507,515 / G/A / 0.31 / 0.33 / 0.25 / -
A-08 / rs9838614 / ENDOGL1 / 5' upstream / 38,512,675 / T/C / 0.31 / 0.33 / 0.20 / -
A-09 / rs2300668 / ENDOGL1 / Intron2 / 38,515,545 / G/A / 0.31 / 0.33 / 0.21 / -
SNP374 / rs4371464 / ENDOGL1 / Intron4 / 38,523,025 / C/T / 0.42 / 0.44 / 0.22 / -
* / B-01 / rs2154778 / ENDOGL1 / Intron5 / 38,528,643 / T/C / 0.30 / 0.32 / 0.12 / -
* / B-02 / rs2284819 / ENDOGL1 / Intron5 / 38,532,166 / C/T / 0.30 / 0.32 / 0.13 / -
* / B-03 / rs6805386 / ENDOGL1 / Intron5 / 38,532,926 / C/T / 0.30 / 0.33 / 0.12 / -
* / B-04 / rs6599209 / ENDOGL1 / Intron5 / 38,533,201 / G/A / 0.42 / 0.44 / 0.24 / -
* / B-05 / rs6599210 / ENDOGL1 / Intron5 / 38,533,214 / G/A / 0.16 / 0.11 / 0.000348c / 1.30 (1.13–1.50)
* / B-06 / rs7644530 / ENDOGL1 / Intron5 / 38,533,320 / T/C / 0.30 / 0.32 / 0.091 / -
* / B-07 / rs6599211 / ENDOGL1 / Intron5 / 38,533,834 / G/A / 0.48 / 0.45 / 0.047c / 1.14 (1.01–1.32)
* / B-08 / rs17037804 / ENDOGL1 / Intron5 / 38,534,219 / A/G / 0.39 / 0.32 / 0.000038c / 1.34 (1.16–1.54)
SNP375 / rs2051211 / ENDOGL1 / Intron5 / 38,534,753 / A/G / 0.39 / 0.32 / 0.000046c / 1.33 (1.17–1.53)
* / B-09 / rs2051213 / ENDOGL1 / Intron5 / 38,535,258 / G/A / 0.42 / 0.44 / 0.20 / -
* / B-10 / rs2051214 / ENDOGL1 / Intron5 / 38,535,307 / C/A / 0.48 / 0.45 / 0.072 / -
SNP376 / rs2051216 / ENDOGL1 / Intron5 / 38,537,292 / T/C / 0.30 / 0.32 / 0.096 / -
SNP377 / rs2284820 / ENDOGL1 / Intron5 / 38,537,583 / T/C / 0.30 / 0.32 / 0.10 / -
* / B-11 / rs2070490 / ENDOGL1 / 3'UTR / 38,541,086 / A/T / 0.16 / 0.12 / 0.0012c / 1.37 (1.13–1.66)
* / B-12 / rs1073506 / ENDOGL1 / 3' down stream / 38,541,238 / T/G / 0.43 / 0.45 / 0.26 / -
SNP378 / rs1065800 / ENDOGL1 / 3' down stream / 38,541,484 / A/G / 0.29 / 0.32 / 0.095 / -
* / B-13 / rs1132064 / ENDOGL1 / 3' down stream / 38,541,523 / C/T / 0.42 / 0.44 / 0.20 / -
* / B-14 / rs1073505 / ENDOGL1 / 3' down stream / 38,541,726 / C/T / 0.43 / 0.45 / 0.27 / -
* / B-15 / rs6796845 / ENDOGL1 / 3' down stream / 38,542,775 / A/C / 0.30 / 0.32 / 0.12 / -
* / B-16 / rs4679066 / ENDOGL1 / 3' down stream / 38,543,531 / G/A / 0.43 / 0.44 / 0.30 / -
* / B-17 / new SNP / ENDOGL1 / 3' down stream / 38,543,615 / C/T / 0.39 / 0.33 / 0.0062 c / 1.33 (1.15–1.55)
SNP379 / rs9829192 / ENDOGL1 / 3' down stream / 38,544,467 / T/G / 0.30 / 0.32 / 0.12 / -
* / B-18 / rs7649984 / ENDOGL1 / 3' down stream / 38,545,225 / C/T / 0.48 / 0.45 / 0.047 c / 1.14 (1.01–1.32)
* / B-19 / rs7647657 / ENDOGL1 / 3' down stream / 38,548,750 / A/G / 0.48 / 0.45 / 0.048 c / 1.14 (1.01–1.32)
A-10 / rs6810361 / - / Intergenic / 38,549,972 / T/C / 0.37 / 0.41 / 0.03 / 0.86 (0.75–0.98)
* / B-20 / rs6767797 / - / Intergenic / 38,557,575 / G/A / 0.41 / 0.46 / 0.0013 / 0.80 (0.70–0.93)
* / B-21 / rs12634016 / - / Intergenic / 38,558,029 / A/G / 0.42 / 0.45 / 0.20 / -
A-11 / rs12053903 / SCN5A / Intron27 / 38,568,397 / T/C / 0.48 / 0.49 / 0.17 / -
A-12 / rs6793245 / SCN5A / Intron23 / 38,574,038 / G/A / 0.40 / 0.38 / 0.17 / -
A-13 / rs6799868 / SCN5A / Intron23 / 38,576,560 / T/C / 0.40 / 0.37 / 0.093 / -
A-14 / rs9873213 / SCN5A / Intron7 / 38,624,928 / C/T / 0.38 / 0.37 / 0.47 / -
SNP381 / rs6793943 / SCN5A / Intron6 / 38,629,697 / C/T / 0.37 / 0.36 / 0.51 / -

a We defined the gene region between 5 kb upstream of the transcription start site and 5 kb downstream of the final exon in this table to clearly separate ENDOGL1 and ACVR2B

bAllelic p values denote the results of 2 tests applied to the first and second stage combined data

cp< 0.05 in the LD block

*denotes 21 SNPs (MAF> 0.1) that we identified by resequencing the interval spanning 35 kb

Case type 2 diabetic patients, SLC22A14solute carrier family 22 (organic cation transporter), member 14,XYLBxylulokinase homolog(H. influenzae),SCN5Asodium channel, voltage-gated, type V, alpha subunit.