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Chunk #7 — Results — eQTL at a common inversion polymorphism on chromosome 17q21

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Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders.
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on the H1 or H2 haplotypes.Table 1Fetal brain eGenes located at a common inversion polymorphism on chromosome 17q21eGeneENSEMBL IDNumber eQTL SNPs FDR < 0.05Top eQTLTop eQTLFDRr2 with inversion*H1/H2 expression ratio NSF ENSG0000007396940rs38749434.05E−060.141.02 KANSL1 ENSG000001200712226rs26686902.81E−140.940.89 LRRC37A ENSG000001766812225rs37858845.89E−170.970.80 ARL17A ENSG0000018582934rs18631157.03E−040.111.00 KANSL1-AS1 ENSG000002144012215rs620571511.72E−110.940.81 LRRC37A4P ENSG000002144252210rs559447357.40E−120.971.96 ARL17B ENSG0000022869648rs18631151.82E−060.111.02 LRRC37A2 ENSG000002380832213rs7532367.11E−150.940.83 NSFP1 ENSG0000026007554rs18631152.89E−140.111.22 AC005670.2 ENSG000002626331036rs26966894.02E−030.650.91 MAPK8IP1P2 ENSG000002635032276rs1114478591.50E−230.970.39 DND1P1 ENSG00000264070219917:442198311.73E−080.971.38 MAPT-AS1 ENSG000002645891816rs608144183.01E−020.611.15 RN7SL199P ENSG000002653152203rs561802122.47E−090.970.78 RN7SL656P ENSG000002654112204rs561802122.17E−090.970.78 AC138645.1 ENSG000002664972218rs43270905.75E−110.940.82 AC091132.3 ENSG000002665042213rs43270905.12E−110.940.82 AC091132.4 ENSG000002669182066rs98998331.55E−020.541.06 AC091132.5 ENSG0000026719839rs794759687.94E−050.041.03 AC091132.6 ENSG000002672462253rs7532367.61E−110.940.76 Metazoa_SRP ENSG000002787702215rs43270902.30E−090.941.54*Consistent with Stefansson et al [22], inversion status was inferred through genotype at SNP rs1800547, with the MAPT haplotype “H2” used to denote the inversion and “H1” the non-inverted form