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. 2022 Sep 29;13:5733. doi: 10.1038/s41467-022-33367-w

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 6 — a MIR7-1 is located in the last intron of HNRNPK (dark grey, GENCODE V38; chr9:83.6-84.1 Mb). Tracks display ENCODE candidate cis-Regulatory Elements (ENCODE cCREs¹¹²; red, promotor-like; orange, proximal enhancer-like; yellow: distal enhancer-like; blue: CTCF-only) and histone acetylation (H3K27Ac) tracks (UCSC browser hg38, (http://genome.ucsc.edu¹¹³). Tracks labelled with phenotypic traits (UK Biobank Neale v2, 2018) show the position of fine-mapped variants with Open Targets variant-to-gene (V2G) annotations for HNRNPK within this chromosomal region. Trait superscripts 1-6 refer to study-locus summary statistics in Supplementary Data 1b. Summary statistics for study-locus associations which had an Open Targets locus-to-gene (L2G) annotation for HNRNPK are provided in Supplementary Data 1. b Fine-mapping of GWAS locus for standing height, shown as posterior probability (PP) for each variant in the 95% credible set (UK Biobank-derived trait NEALE2_50_raw, lead variant chr9:84,020,284 G > C; data from Open Targets; Supplementary Data 1). The shaded area indicates a region where credible variants overlap with predicted regulatory regions immediately 5’ of HNRNPK. Six of these seven variants are in high pairwise LD (r² > 0.95). c LocusZoom of the reported cis-eQTL for HNRNPK expression in monocytes (BLUEPRINT); data from FIVEx, https://fivex.sph.umich.edu. Open Targets reported evidence of colocalisation with standing height (UKB Neale v2, 2018; coloc¹¹⁴, H4 = 0.81, QTL beta = 0.04). eQTL minimum p-value was at rs10868089-C (chr9:84,042,868 T > C, LD reference variant). d Zoomed-in view showing predicted ENCODE cis-Regulatory Elements immediately 5’ of HNRNPK (chr9:83.976-83.984 Mb). Displays variants which are contained in a credible set of a selected trait (for UK Biobank-derived traits) or are in linkage disequilibrium (r² > 0.8) with the lead variant (for non-UK Biobank studies). Trait superscripts 4-13 refer to study-locus summary statistics in Supplementary Data 1b. e Single-variant summary statistics (p-value and direction of effect) for the HNRNPK eQTL lead variant shown in (c) (rs10868089-C, chr9:84042868 T > C) obtained from Open Targets. Points represent UK Biobank-derived traits (UK Biobank Neale v2, 2018) with single-variant P < 0.05.