Table 2.
Location | Site Summary in the Analyzed Population n = 7 | Annotation | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Ref | Alt | A1 | F_A1 HF | F_A 1 LF | A2 | SeqCpG | Annotation | Distance to TSS |
ENSEMBL ID | GENE ID | Description | |
chr1:13745053 | G | A | A | 0.5 | 0.25 | G | GC | Intron | 28,711 | ENSSSCG00000004081 | ||
chr1:13745059 | T | C | C | 0.5 | 0.25 | T | TC | 28,717 | ||||
chr1:13745092 | C | T | T | 0.5 | 0.25 | C | CG | 28,750 | ||||
chr1:54055492 | A | G | G | 0 | 0.625 | A | AG | Distal Intergenic | 33,321 | ENSSSCG00000035731 | − | |
chr1:54055493 | G | C | C | 0 | 0.625 | G | GC | 33,320 | ||||
chr1:54055625 | G | C | C | 0 | 0.625 | G | GA | 33,188 | ||||
chr1:57269839 | T | A | A | 0 | 0.625 | T | TG | Intron | −3712 | ENSSSCG00000024249 | GABRR2 | gamma-aminobutyric acid type A receptor subunit rho2 [Source:NCBI gene (formerly Entrezgene);Acc:100522289] |
chr1:57269858 | T | C | C | 0 | 0.625 | T | TC | −3731 | ||||
chr1:57277143 | C | A | A | 0 | 0.625 | C | CA | −11,016 | ||||
chr1:57528770 | G | A | A | 0 | 0.625 | G | GC | Intron | 61,949 | ENSSSCG00000050825 | ||
chr1:57621352 | G | A | A | 0 | 0.625 | G | GC | Promoter | 2902 | ENSSSCG00000004322 | ANKRD6 | ankyrin repeat domain 6 [Source:NCBI gene (formerly Entrezgene);Acc:102167335] |
chr1:57621367 | G | A | A | 0 | 0.625 | G | GG | 2917 | ||||
chr1:57621370 | T | C | C | 0 | 0.625 | T | TT | 2920 | ||||
chr1:128707723 | C | T | T | 0 | 0.625 | C | TG | Promoter | 1229 | ENSSSCG00000022039 | ||
chr1:140846691 | A | C | C | 0.5 | 0.25 | A | AT | Intron | 170,343 | ENSSSCG00000038547 | GABRB3 | gamma-aminobutyric acid type A receptor subunit beta3 [Source:VGNC Symbol;Acc:VGNC:88308] |
chr1:167452422 | C | G | G | 0 | 0.625 | C | GA | Distal Intergenic | 63,364 | ENSSSCG00000045133 | ||
chr1:168947778 | T | G | G | 0 | 0.625 | T | TG | Intron | −147,253 | ENSSSCG00000045715 | ||
chr2:10168387 | C | T | C | 0 | 0.625 | T | TC | Intron | 3002 | ENSSSCG00000013087 | TKFC | triokinase and FMN cyclase [Source:NCBI gene (formerly Entrezgene);Acc:100520121] |
chr2:10168389 | C | G | G | 0 | 0.625 | C | CA | 3000 | ||||
chr2:13387750 | G | T | T | 0 | 0.625 | G | TG | Promoter | −2942 | ENSSSCG00000031163 | smoothelin like 1 [Source:NCBI gene (formerly Entrezgene);Acc:110259259] | |
chr2:13387762 | G | A | A | 0 | 0.625 | G | AA | −2954 | ||||
chr3:16873170 | G | C | C | 0.5 | 0.25 | G | GT | Distal Intergenic | −4753 | ENSSSCG00000007748 | PSPH | phosphoserine phosphatase [Source:VGNC Symbol;Acc:VGNC:91931] |
chr6:3925771 | C | G | G | 0 | 0.625 | C | CA | Intron | 18,808 | ENSSSCG00000002669 | CRISPLD2 | cysteine rich secretory protein LCCL domain containing 2 [Source:VGNC Symbol;Acc:VGNC:96958] |
chr6:3925776 | C | G | G | 0 | 0.625 | C | CC | 18,803 | ||||
chr6:3925779 | C | T | T | 0 | 0.625 | C | CC | 18,800 | ||||
chr6:7702343 | G | C | C | 0 | 0.625 | G | GG | Intron | −4397 | ENSSSCG00000045637 | ||
chr6:7702375 | G | A | A | 0 | 0.625 | G | GG | −4429 | ||||
chr6:101129470 | A | G | G | 0 | 0.625 | A | AT | Distal Intergenic | 35,288 | ENSSSCG00000049298 | ||
chr7:87106399 | G | T | T | 0.5 | 0.25 | G | GA | Distal Intergenic | −3090 | ENSSSCG00000002263 | SLCO3A1 | solute carrier organic anion transporter family member 3A1 [Source:VGNC Symbol;Acc:VGNC:93197] |
chr7:115966284 | C | T | T | 0 | 0.625 | C | CG | Intron | 5808 | ENSSSCG00000030371 | SERPINA3-2 | alpha-1-antichymotrypsin 2 [Source:NCBI gene (formerly Entrezgene);Acc:396686] |
chr7:115966307 | C | T | T | 0 | 0.625 | C | CC | 5785 | ||||
chr7:115982628 | C | A | A | 0 | 0.625 | C | AA | 4776 | ||||
chr7:115982655 | G | T | T | 0 | 0.625 | G | TG | 4749 | ||||
chr8:1318578 | C | T | T | 0.5 | 0.25 | C | CG | Intron | 5424 | ENSSSCG00000034633 | CFAP99 | cilia and flagella associated protein 99 [Source:VGNC Symbol;Acc:VGNC:86608] |
chr8:1328667 | A | G | G | 0.5 | 0.25 | A | AG | 15,513 | ||||
chr9:40003949 | A | G | G | 0.5 | 0.25 | A | GC | Distal Intergenic | −46,046 | ENSSSCG00000050685 | ||
chr9:40003978 | T | C | C | 0.5 | 0.25 | T | TG | −46,017 | ||||
chr9:45947327 | G | T | T | 0.5 | 0.25 | G | TT | Intron | 15,089 | ENSSSCG00000028204 | TREH | trehalase [Source:VGNC Symbol;Acc:VGNC:94382] |
chr11:7034734 | A | T | T | 0.5 | 0.25 | A | AA | Intron | 50,584 | ENSSSCG00000009326 | KATNAL1 | katanin catalytic subunit A1 like 1 [Source:VGNC Symbol;Acc:VGNC:89310] |
chr11:16127229 | G | A | A | 0.5 | 0.25 | G | GG | Intron | 67,905 | ENSSSCG00000040538 | WDFY2 | WD repeat and FYVE domain containing 2 [Source:VGNC Symbol;Acc:VGNC:94902] |
chr11:61861680 | G | C | C | 0 | 0.625 | G | GG | Intron | 323,962 | ENSSSCG00000048281 | ||
chr12:19677123 | G | A | A | 0 | 0.625 | G | GC | Intron | −4345 | ENSSSCG00000040316 | U2 | U2 spliceosomal RNA [Source:RFAM;Acc:RF00004] |
chr12:41648810 | G | A | A | 0.5 | 0.25 | G | GT | Intron | −78,192 | ENSSSCG00000040177 | ASIC2 | acid sensing ion channel subunit 2 [Source:VGNC Symbol;Acc:VGNC:97893] |
chr12:41648838 | T | C | C | 0.5 | 0.25 | T | TC | −78,164 | ||||
chr12:42246850 | A | G | G | 0 | 0.625 | A | AA | Intron | −61,012 | ENSSSCG00000050001 | ||
chr14:4991961 | T | G | G | 1 | 0.125 | T | TT | Distal Intergenic | 419,328 | ENSSSCG00000018795 | ||
chr14:24479770 | A | G | G | 0 | 0.625 | A | GT | Intron | 46,536 | ENSSSCG00000009748 | RIMBP2 | RIMS binding protein 2 [Source:VGNC Symbol;Acc:VGNC:92306] |
chr14:56252347 | G | C | C | 0.5 | 0.25 | G | GG | Promoter | −1423 | ENSSSCG00000043646 | ||
chr15:63579255 | C | T | T | 0.5 | 0.25 | C | CC | Distal Intergenic | −13,443 | ENSSSCG00000015872 | GPD2 | glycerol-3-phosphate dehydrogenase 2 [Source:VGNC Symbol;Acc:VGNC:96330] |
chr15:63579295 | A | G | G | 0.5 | 0.25 | A | AA | −13,403 | ||||
chr15:140048049 | C | T | T | 0.5 | 0.25 | C | CG | Intron | −12,312 | ENSSSCG00000016368 | FARP2 | FERM, ARH/RhoGEF and pleckstrin domain protein 2 [Source:VGNC Symbol;Acc:VGNC:95809] |
chr15:140089430 | A | T | T | 0.5 | 0.25 | A | AA | 14,636 | ||||
chr16:53406651 | T | C | C | 0 | 0.625 | T | CC | Intron | −81,737 | ENSSSCG00000017003 | KCNIP1 | potassium voltage-gated channel interacting protein 1 [Source:VGNC Symbol;Acc:VGNC:89348] |
chrY:5970972 | T | A | T | 1 | 0 | A | AA | Intron | 24,002 | ENSSSCG00000039894 | ||
chrY:5970979 | G | C | G | 1 | 0 | C | CG | 24,009 |