Package haplor. November 1, 2017

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Type Package Title Query 'HaploReg' and 'RegulomeDB' Version 1.6.2 Date 2017-10-31 Package haplor November 1, 2017 Maintainer Ilya Y. Zhbannikov <ilya.zhbannikov@duke.edu> A set of utilities for querying 'HaploReg' <http://archive.broadinstitute.org/mammals/haploreg/haploreg.php> and 'RegulomeDB' <http://www.regulomedb.org> web-based tools. The package connects to 'HaploReg' or 'RegulomeDB', searches and downloads results, without opening web pages, directly from R environment. Results are stored in a data frame that can be directly used in various kinds of downstream analyses. RoxygenNote 6.0.1 Suggests knitr, rmarkdown,openxlsx VignetteBuilder knitr Imports httr,xml,tibble,runit,plyr Depends R (>= 3.3.2) Encoding UTF-8 License GPL-3 NeedsCompilation no Author Ilya Y. Zhbannikov [aut, cre], Anatoliy I Yashin [ctb] (Anatoliy supervised the technical/software development and is a Principal Invesigator of this project) Repository CRAN Date/Publication 2017-10-31 23:30:02 UTC R topics documented: getextendedview...................................... 2 getstudylist......................................... 2 queryhaploreg....................................... 3 queryregulome....................................... 4 1

2 getstudylist Index 5 getextendedview This function queries HaploReg web-based tool in order to Extended view for SNP of interest This function queries HaploReg web-based tool in order to Extended view for SNP of interest getextendedview(snp, = "http://archive.broadinstitute.org/mammals/haploreg/detail_v4.1.php?query=&id=") snp A SNP of interest. A to HaploReg. Default: <"http://archive.broadinstitute.org/mammals/haploreg/detail_v4.1.php?query A list of tables t1, t2,..., etc depending on information contained in HaploReg database. tables <- getextendedview(snp="rs10048158") tables getstudylist This function queries HaploReg web-based tool in order to see a list of GWAS. This function queries HaploReg web-based tool in order to see a list of GWAS. getstudylist( = "http://archive.broadinstitute.org/mammals/haploreg/haploreg.php") A to HaploReg. Default: <http://archive.broadinstitute.org/mammals/haploreg/haploreg.php>

queryhaploreg 3 A list of studies. Each study is itself a list of two: name, id. studies <- getstudylist() studies queryhaploreg This function queries HaploReg web-based tool and returns results. This function queries HaploReg web-based tool and returns results. queryhaploreg(query = NULL, file = NULL, study = NULL, ldthresh = 0.8, ldpop = "EUR", epi = "vanilla", cons = "siphy", genetypes = "gencode", = "http://archive.broadinstitute.org/mammals/haploreg/haploreg.php", timeout = 100, encoding = "UTF-8", querysnp = FALSE, fields = NULL, verbose = FALSE) query Query (a vector of rsids). file A text file (one refsnp ID per line). study A particular study. See function gethaploregstudylist(...). Default: NULL. ldthresh LD threshold, r2 (select NA to only show query variants). Default: 0.8. ldpop 1000G Phase 1 population for LD calculation. Can be: "AFR", "AMR", "ASN". Default: "EUR". epi Source for epigenomes. Possible values: vanilla for ChromHMM (Core 15- state model); imputed for ChromHMM (25-state model using 12 imputed marks); methyl for H3K4me1/H3K4me3 peaks; acetyl for H3K27ac/H3K9ac peaks. Default: vanilla. cons Mammalian conservation algorithm. Possible values: gerp for GERP, siphy for SiPhy-omega, both for both. Default: siphy. genetypes Show position relative to. Possible values: gencode for Gencode genes; refseq for RefSeq genes; both for both. Default: gencode. HaploReg address. Default: <http://archive.broadinstitute.org/mammals/haploreg/haploreg.php> timeout A timeout parameter for c. Default: 100 encoding sets the encoding for correct retrieval web-page content. Default: UTF-8 querysnp A flag indicating to return query SNPs only. Default: FALSE fields A set of fields to extract. Refer to the package vignette for available fields. Default: All. verbose Verbosing output. Default: FALSE.

4 queryregulome A data frame (table) with results similar to HaploReg uses. library(haplor) data <- queryhaploreg(c("rs10048158","rs4791078")) head(data) queryregulome This function queries RegulomeDB www.regulomedb.org web-based tool and returns results in a data frame. This function queries RegulomeDB www.regulomedb.org web-based tool and returns results in a data frame. queryregulome(query = NULL, format = "full", = "http://www.regulomedb.org/results", timeout = 100, check_bad_snps = TRUE, verbose = FALSE) query format Query (a vector of rsids). An output format. Can be on of the following: full - plain text, bed - BED (Browser Extensible Data) format, see e.g. <https://genome.ucsc.edu/faq/faqformat.html#format5.1>, gff - GFF (General Feature Format), see e.g. <https://genome.ucsc.edu/faq/faqformat.html#format3> Only full is currently supported. Regulome address. Default: <http://www.regulomedb.org/results> timeout A timeout parameter for c. Default: 10 check_bad_snps Checks if all SNPs are annotated. Default: TRUE verbose Verbosing output. Default: FALSE. A list of two: (1) a data frame (table) and (2) a list of bad SNP IDs. Bad SNP ID are those IDs that were not found in 1000 Genomes Phase 1 data data <- queryregulome(c("rs4791078","rs10048158")) head(data[["res.table"]]) head(data[["bad.snp.id"]])

Index getextendedview, 2 getstudylist, 2 queryhaploreg, 3 queryregulome, 4 5