Table 2. SNPs associated with allele-specific expression of lncRNA windows with published trait- or disease-associations from genome-wide association studies.
ASE | GWAS | |||||
Genomicregion oflncRNA | Distance toGWASSNP (bp)1 | In or closeto histonemark | ASEp-value | Slope2 | SNP3 | Trait4 |
1: 22224268–22229983 | 16228 | H3K4m15 | 2.41E-7 | 0.13 | rs2501276 | Immune responseto smallpoxvaccine (IL-6) |
1: 22224268–22229983 | 128475 | 3.03E-7 | 0.07 | rs16826658 | Endometriosis | |
1: 41480834–41523120 | 177376 | 2.66E-12 | 0.09 | rs66868426 | Height | |
1: 220153613–220218488 | 13083 | H3K4m1 | 8.46E-17 | 0.22 | rs6687758 | Colorectalcancer |
2: 19067188–19369296 | 68959 | 1.36E-7 | 0.06 | rs1876040 | Cognitive testperformance | |
2: 101944950–101970061 | 59999 | 1.32E-7 | 0.08 | rs2310173 | Ankylosingspondylitis | |
2: 166359613–166410847 | 68123 | 5.60E-9 | 0.06 | rs6710518 | Bone mineraldensity | |
2: 166359613–166410847 | 50321 | 1.82E-9 | 0.06 | rs13460047 | Bone mineraldensity | |
3: 157947829–158017517 | 91268 | 3.72E-25 | 0.08 | rs12638253 | Multiplesclerosis(severity) | |
6: 28237538–28245351 | 184924 | H3K4m15H3K27ac5 | 2.25E-8 | 0.06 | rs69038238 | Pulmonaryfunction |
6: 30050868–30054162 | 7639 | H3K4m1 | 5.90E-11 | 0.08 | rs3893464 | Graves’disease |
6: 29802357–29824805 | 257099 | H3K27ac5 | 6.18E-7 | 0.08 | rs43130349 | Graves’disease |
6: 30874410–30906415 | 204180 | 4.05E-12 | 0.11 | rs4248154 | Graves’disease | |
6: 58380311–58395738 | 21176 | 3.60E-21 | 0.07 | rs950025610 | Eosinophilicesophagitis(pediatric) | |
7: 1166536–1171429 | 161007 | 3.40E-14 | 0.07 | rs10256972 | Longevity | |
7: 7261310–7283935 | 26354 | 4.86E-9 | 0.07 | rs10259085 | Multiplesclerosis(severity) | |
7: 7261310–7283935 | 0 | H3K4m15 | 3.41E-7 | 0.06 | rs1299548 | Amount of visceraladipose tissue adjustedfor body massindex (BMI) |
8: 23138679–23144384 | 0 | H3K4m15H3K27ac5 | 9.45E-89 | 0.27 | rs13278062 | Age-relatedmacular degeneration |
9: 122645199–122654702 | 25619 | H3K4m1H3K27ac5 | 4.09E-16 | 0.13 | rs1953126 | Celiac disease andRheumatoid arthritis |
9: 122645199–122654702 | 38017 | 1.02E-16 | 0.13 | rs881375 | Rheumatoidarthritis | |
9: 122645199–122654702 | 75358 | H3K4m15H3K27ac5 | 4.13E-17 | 0.13 | rs3761847 | Rheumatoidarthritis |
9: 135120874–135140438 | 0 | 3.39E-50 | 0.43 | rs687621 | D-dimerlevels | |
9: 135120874–135140438 | 0 | 2.69E-66 | 0.43 | rs657152 | Liver enzymelevels | |
9: 135120874–135140438 | 0 | 2.69E-66 | 0.43 | rs643434 | Inflammatorybiomarkers | |
9: 135120874–135140438 | 0 | 5.66E-52 | 0.44 | rs612169 | Metabolictraits | |
9: 135120874–135140438 | 0 | 1.00E-50 | 0.44 | rs505922 | Proteinquantitativetrait loci | |
9: 135120874–135140438 | 0 | 3.80E-22 | 0.43 | rs507666 | SolubleICAM-1 | |
9: 135120874–135140438 | 3551 | 8.83E-26 | 0.43 | rs579459 | Soluble E-selectinlevels | |
9: 135120874–135140438 | 4250 | 7.93E-25 | 0.43 | rs495828 | Angiotensin-convertingenzyme activity | |
15: 43458687–43481812 | 30170 | 1.24E-21 | 0.14 | rs245353311 | Chronickidney disease | |
15: 82975686–82986699 | 245274 | 4.86E-13 | 0.05 | rs374316212 | Alzheimer’sdisease (ageof onset) | |
17: 26060783–26121168 | 150673 | H3K4m1 | 1.28E-8 | 0.06 | rs3760318 | Height |
The distance to the lncRNA region is 0 if the SNP is located within the region and the smallest distance otherwise,
Slope is given in absolute numbers,
Listed are all cis-rSNPs that are also found in the GWAS catalog together with the associated lncRNA,
The trait is taken from the GWAS catalog,
Within 2.5 kb,
rs6663565 as proxy,
rs2303393 as proxy,
rs6922111 as proxy,
rs7739434 as proxy,
rs13214831 as proxy,
rs1153862 as proxy,
rs12442557 as proxy.