Table 2.
Significant loci associated with hemorheology indexes from the GWAS cohorts
| Characteristics | SNP ID | Chr | Position | REF/ALT | SNP function | RefGene | MAF | β | SE | ρ value | GWAS catalog | HaploReg |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| nd1 | rs117580912 | 2 | 51,343,364 | C/T | ncRNA intronic | LOC730100 | 0.005 | 0.011 | 0.039 | 9.56E–07 | – | Motifs changed |
|
| ||||||||||||
| nd30 | rs4689231 | 4 | 5,437,107 | G/A | Intronic | STK32B | 0.370 | 0.162 | 0.330 | 3.85E–06 | – | Motifs changed |
|
|
||||||||||||
| rs28371438 | 21 | 32,986,517 | C/T | Intergenic | LOC102724502;OLIG2 | 0.478 | –0.231 | 0.331 | 8.58E–07 | Height | Motifs changed | |
|
| ||||||||||||
| nd300 | rs4689231 | 4 | 5,437,107 | G/A | Intronic | STK32B | 0.370 | 0.200 | 1.107 | 2.94E–06 | – | Motifs changed |
|
|
||||||||||||
| rs115646937 | 10 | 84,813,648 | A/G | Intergenic | CCSER2;LINC01519 | 0.092 | –0.031 | 1.107 | 3.90E–06 | – | Motifs changed | |
|
|
||||||||||||
| rs28371438 | 21 | 32,986,517 | C/T | Intergenic | LOC102724502;OLIG2 | 0.478 | –0.193 | 1.107 | 1.89E–06 | Height | Motifs changed | |
|
| ||||||||||||
| Relative index of whole blood hyposectomy | rs34469348 | 3 | 115,815,531 | G/T | Intronic | LSAMP | 0.094 | –0.359 | 0.140 | 4.87E–06 | – | Motifs changed |
|
|
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| rs9361295 | 6 | 77,831,550 | C/A | Intronic | MEI4 | 0.259 | –0.388 | 0.141 | 2.44E–06 | – | Motifs changed | |
|
|
||||||||||||
| rs2410367 | 8 | 15,931,636 | T/C | Intergenic | TUSC3;MSR1 | 0.222 | –0.194 | 0.140 | 4.24E–07 | – | Motifs changed | |
|
|
||||||||||||
| rs10977588 | 9 | 9,218,157 | C/T | Intronic | PTPRD | 0.010 | –0.266 | 0.139 | 2.88E–06 | – | Motifs changed | |
|
|
||||||||||||
| rs745439 | 19 | 31,537,088 | C/T | Intergenic | TSHZ3;THEG5 | 0.386 | –0.450 | 0.143 | 3.14E–06 | – | Motifs changed | |
|
| ||||||||||||
| Erythrocyte aggregation index | rs11255044 | 10 | 7,221,420 | G/C | Intronic | SFME5T2 | 0.033 | –0.063 | 1.433 | 4.83E–07 | – | Motifs changed |
|
|
||||||||||||
| rs67538811 | 11 | 39,184,039 | G/A | Intergenic | LINC01493;LRRC4C | 0.140 | 0.030 | 1.436 | 5.21E–07 | – | Motifs changed | |
|
|
||||||||||||
| rs12420881 | 11 | 21,664,423 | C/A | Intergenic | NELLI;AN05 | 0.007 | –0.006 | 1.433 | 2.21E–06 | – | Motifs changed | |
|
|
||||||||||||
| rs56670740 | 12 | 103,353,181 | T/A | Intronic | C12orf42 | 0.247 | –0.149 | 1.435 | 1.53E–06 | – | Enhancer histone marks, motifs changed | |
|
| ||||||||||||
| Erythrocyte rigidity index | rs11661911 | 18 | 70,983,826 | A/C | Intergenic | GTSCR1;LINC01541 | 0.135 | –0.104 | 0.952 | 9.93E–09 | – | Motifs changed |
|
|
||||||||||||
| rs1297329 | 21 | 15,939,669 | G/A | Intergenic | USP25;MIR99AHG | 0.013 | –0.018 | 0.957 | 1.81E–06 | – | Motifs changed | |
|
|
||||||||||||
| rs28371438 | 21 | 32,986,517 | C/T | Intergenic | LOC102724502;OLIG2 | 0.478 | –0.220 | 0.958 | 1.29E–06 | Height | Motifs changed | |
|
| ||||||||||||
| Erythrocyte deformation index | rs2900050 | 5 | 110,721,671 | G/A | Intronic | TMEM232 | 0.008 | 0.092 | 0.998 | 3.72E–06 | – | Motifs changed, selected eQTL hits |
|
|
||||||||||||
| rs1297329 | 21 | 15,939,669 | G/A | Intergenic | USP25;MIR99AHG | 0.013 | 0.057 | 0.996 | 1.14E–06 | – | Motifs changed | |
|
| ||||||||||||
| Assigned viscosity | rs28371438 | 21 | 32,986,517 | C/T | Intergenic | LOC102724502;OLIG2 | 0.479 | –0.200 | 1.559 | 6.20E–08 | Height | Motifs changed |
|
| ||||||||||||
| Fibrinogen | rs78314456 | 1 | 224,640,188 | C/T | Intronic | CNIH3 | 0.008 | –0.024 | 0.407 | 1.95E–06 | – | Enhancer histone marks, DNAse, motifs changed |
|
|
||||||||||||
| rs3985087 | 5 | 110,736,955 | C/A | Intergenic | TMEM232;SLC25A46 | 0.025 | –0.052 | 0.407 | 1.31E–06 | Promoter histone marks, enhancer histone marks, DNAse, proteins bound, motifs changed, selected eQTL hits | ||
|
|
||||||||||||
| rs34247085 | 16 | 86,472,977 | G/A | Intergenic | LINC00917;FENDRR | 0.008 | 0.033 | 0.408 | 1.80E–06 | – | Enhancer histone marks, motifs changed | |
|
|
||||||||||||
| rs9966987 | 18 | 1,918,849 | C/A | Intergenic | LINC00470;METTL4 | 0.330 | 0.153 | 0.408 | 4.29E–07 | – | Enhancer histone marks, motifs changed | |
|
| ||||||||||||
| Whole blood high cut reduction viscosity | rs144907988 | 4 | 22,589,091 | C/T | Intergenic | ADGRA3;GBA3 | 0.002 | –0.229 | 0.150 | 1.74E–06 | – | – |
|
|
||||||||||||
| rs6827644 | 4 | 80,874,656 | C/T | Intronic | C4orf22 | 0.066 | –0.311 | 0.151 | 3.18E–06 | – | Motifs changed | |
|
|
||||||||||||
| rs1030490 | 5 | 4,574,832 | T/G | Intergenic | IRX1;LINC02114 | 0.401 | –0.037 | 0.156 | 2.53E–06 | – | Motifs changed | |
|
|
||||||||||||
| rs11911466 | 21 | 32,983,986 | T/C | Intergenic | LOC102724502;OLIG2 | 0.416 | –0.397 | 0.153 | 7.37E–07 | – | Enhancer histone marks, motifs changed | |
|
|
||||||||||||
| rs6519816 | 22 | 43,905,383 | C/T | Intergenic | PNPLA5;PNPLA3 | 0.155 | –0.165 | 0.151 | 3.37E–06 | – | Enhancer histone marks, motifs changed | |
|
| ||||||||||||
| Whole blood high cut relative index | rs11990599 | 8 | 126,350,838 | T/C | Intergenic | LOC101927657;FAM84B | 0.120 | –0.091 | 0.042 | 3.11E–06 | – | Motifs changed |
|
|
||||||||||||
| rs11661911 | 18 | 70,983,826 | A/C | Intergenic | GTSCR1;LINC01541 | 0.134 | –0.105 | 0.043 | 2.09E–07 | – | Motifs changed | |
|
|
||||||||||||
| rs28371438 | 21 | 32,986,517 | C/T | Intergenic | LOC102724502;OLIG2 | 0.479 | –0.257 | 0.060 | 7.30E–08 | Height | Motifs changed | |
|
| ||||||||||||
| Whole blood low cut reduction viscosity | rs2842173 | 1 | 43,493,328 | T/C | Intergenic | SZT2;PTPRF | 0.217 | –0.280 | 0.159 | 4.56E–07 | – | Enhancer histone marks, selected eQTL hits |
|
|
||||||||||||
| rs74525620 | 3 | 67,290,451 | C/A | Intergenic | MIR4272;SUCLG2 | 0.003 | –0.155 | 0.157 | 4.41E–06 | Promoter histone marks, enhancer histone marks, motifs changed, selected eQTL hits | ||
|
|
||||||||||||
| rs73872706 | 3 | 151,645,475 | G/C | Intergenic | MIR5186;AADACL2 | 0.138 | –0.056 | 0.157 | 1.90E–06 | – | Enhancer histone marks, motifs changed | |
|
|
||||||||||||
| rs246509 | 5 | 52,968,323 | A/C | Intergenic | ITGA1;ITGA2 | 0.219 | –0.242 | 0.159 | 2.05E–06 | – | Motifs changed, selected eQTL hits | |
|
|
||||||||||||
| rs117016320 | 6 | 81,831,622 | T/A | Intergenic | LINC01526;IBTK | 0.012 | –0.142 | 0.157 | 2.09E–06 | Promoter histone marks, enhancer histone marks, DNAse, proteins bound, motifs changed | ||
|
|
||||||||||||
| rs10977641 | 9 | 9,291,862 | A/G | Intronic | PTPRD | 0.009 | –0.140 | 0.157 | 3.02E–06 | – | Motifs changed | |
|
| ||||||||||||
| Plasma viscosity | rs3985087 | 5 | 110,736,955 | C/A | Intergenic | TMEM232;SLC25A46 | 0.025 | –0.048 | 0.917 | 1.01E–06 | Promoter histone marks, enhancer histone marks, DNAse, proteins bound, motifs changed, selected eQTL hits | |
|
|
||||||||||||
| rs118096558 | 5 | 180,197,694 | G/A | Intronic | RASGEF1C | 0.009 | –0.016 | 0.917 | 1.06E–06 | – | Enhancer histone marks, motifs changed | |
|
|
||||||||||||
| rs11794922 | 9 | 18,789,607 | T/G | Intronic | ADAMTSL1 | 0.002 | –0.029 | 0.917 | 4.96E–06 | – | Enhancer histone marks, motifs changed | |
|
|
||||||||||||
| rs76126204 | 12 | 64,983,618 | C/T | ncRNA intronic | LINC02231 | 0.030 | 0.076 | 0.919 | 8.66E–07 | – | Motifs changed | |
|
|
||||||||||||
| rs9966987 | 18 | 1,918,849 | C/A | Intergenic | LINC00470;METTL4 | 0.269 | 0.093 | 0.917 | 4.59E–07 | – | Enhancer histone marks, motifs changed | |
|
|
||||||||||||
| rs140700208 | 6 | 139,497,581 | T/C | Intergenic | LINC01625;LOC100132735 | 0.331 | 0.160 | 0.917 | 1.06E–06 | Promoter histone marks, enhancer histone marks, DNAse, proteins bound, motifs changed | ||
|
| ||||||||||||
| Hematocrit | rs78577937 | 4 | 92,146,844 | A/C | Intergenic | CCSER1;LNCPRESS2 | 0.168 | –0.509 | 0.135 | 1.43E–06 | – | – |
GWAS, genome-wide association study; SNP, single nucleotide polymorphism; REF/ALT, reference/alternates; MAF, minor allele frequency.