Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2019 Mar 22;10:1338. doi: 10.1038/s41467-019-09292-w

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2019

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/.

PMC Copyright notice

Fig. 6 — Allele-specific binding (ASB) events inform functional interpretation of disease-associated variants. a Numbers of ASB single-nucleotide variants (SNVs) that are also disease-related SNVs annotated by different databases. b Genomic context of genome-wide association study (GWAS) single-nucleotide polymorphisms (SNPs) (stacked bars) located in the same or different genes as ASB SNVs. Most GWAS SNPs are located in introns, whose function was elusive. NC exon: exons in non-coding transcripts. Splicing-related: those located in splice site signals. c Splicing reporter validation of two ASB SNVs, similar as Fig. 4e. (Images are cropped, with uncropped images in Supplementary Figure 16.) d Minigene reporter validation of one SNP for its function in modulating messenger RNA (mRNA) abundance, similar as Fig. 5e. Boxplot center lines indicate the median and the boxes extend to lower and upper quartiles with whiskers depicting 1.5 inter-quartile range (IQR). (Source data are provided as a Source Data file)