PMC:4156421 / 22819-23650 JSONTXT

{"project":"2_test","denotations":[{"id":"25192356-21506741-90446786","span":{"begin":205,"end":207},"obj":"21506741"}],"text":"With respect to the first question, rs35705950 is located within the promoter region of MUC5B, is predicted to disrupt transcription factor binding sites, and is correlated with elevated MUC5B expression [11]. Nevertheless, in contrast to whole genome sequencing, not all variants residing on a common haplotype have necessarily been identified and tested for association with disease. We therefore searched contiguous DNA sequence for additional adjacent variants in the vicinity of rs35705950, but did not find additional variants in apparent LD with rs35705950 that either fell within a known DNase hypersensitive site, transcription factor binding site, or were otherwise predicted to be deleterious. Thus, our data do not detract from the hypothesis that rs35705950 is causative of MUC5B dysregulation and disease association."}

{"project":"PubTator4TogoVar","denotations":[{"id":"27734","span":{"begin":484,"end":494},"obj":"SNP"},{"id":"27735","span":{"begin":760,"end":770},"obj":"SNP"},{"id":"27736","span":{"begin":553,"end":563},"obj":"SNP"},{"id":"27737","span":{"begin":36,"end":46},"obj":"SNP"}],"attributes":[{"id":"A27734","pred":"resolved_to","subj":"27734","obj":"tmVar:rs35705950;VariantGroup:27;RS#:35705950"},{"id":"A27735","pred":"resolved_to","subj":"27735","obj":"tmVar:rs35705950;VariantGroup:27;RS#:35705950"},{"id":"A27736","pred":"resolved_to","subj":"27736","obj":"tmVar:rs35705950;VariantGroup:27;RS#:35705950"},{"id":"A27737","pred":"resolved_to","subj":"27737","obj":"tmVar:rs35705950;VariantGroup:27;RS#:35705950"}],"text":"With respect to the first question, rs35705950 is located within the promoter region of MUC5B, is predicted to disrupt transcription factor binding sites, and is correlated with elevated MUC5B expression [11]. Nevertheless, in contrast to whole genome sequencing, not all variants residing on a common haplotype have necessarily been identified and tested for association with disease. We therefore searched contiguous DNA sequence for additional adjacent variants in the vicinity of rs35705950, but did not find additional variants in apparent LD with rs35705950 that either fell within a known DNase hypersensitive site, transcription factor binding site, or were otherwise predicted to be deleterious. Thus, our data do not detract from the hypothesis that rs35705950 is causative of MUC5B dysregulation and disease association."}

{"project":"PubTatorOnTogoVar","denotations":[{"id":"27734","span":{"begin":484,"end":494},"obj":"SNP"},{"id":"27735","span":{"begin":760,"end":770},"obj":"SNP"},{"id":"27736","span":{"begin":553,"end":563},"obj":"SNP"},{"id":"27737","span":{"begin":36,"end":46},"obj":"SNP"},{"id":"T1","span":{"begin":484,"end":494},"obj":"SNP"},{"id":"T2","span":{"begin":760,"end":770},"obj":"SNP"},{"id":"T3","span":{"begin":553,"end":563},"obj":"SNP"},{"id":"T4","span":{"begin":36,"end":46},"obj":"SNP"}],"attributes":[{"id":"A27734","pred":"resolved_to","subj":"27734","obj":"tmVar:rs35705950;VariantGroup:27;RS#:35705950"},{"id":"A27735","pred":"resolved_to","subj":"27735","obj":"tmVar:rs35705950;VariantGroup:27;RS#:35705950"},{"id":"A27736","pred":"resolved_to","subj":"27736","obj":"tmVar:rs35705950;VariantGroup:27;RS#:35705950"},{"id":"A27737","pred":"resolved_to","subj":"27737","obj":"tmVar:rs35705950;VariantGroup:27;RS#:35705950"}],"text":"With respect to the first question, rs35705950 is located within the promoter region of MUC5B, is predicted to disrupt transcription factor binding sites, and is correlated with elevated MUC5B expression [11]. Nevertheless, in contrast to whole genome sequencing, not all variants residing on a common haplotype have necessarily been identified and tested for association with disease. We therefore searched contiguous DNA sequence for additional adjacent variants in the vicinity of rs35705950, but did not find additional variants in apparent LD with rs35705950 that either fell within a known DNase hypersensitive site, transcription factor binding site, or were otherwise predicted to be deleterious. Thus, our data do not detract from the hypothesis that rs35705950 is causative of MUC5B dysregulation and disease association."}