The Influence Of SNP On Transcription Factor Bindingand Gene Expression

People think the disease is the result of human genetic variation in DNA, and single nucleotide polymorphism is the main form of human genomic DNA sequence variation. Studies have found that SNP has a comprehensive relationship with the traits variation and diseases. Most of the SNPs doesn’t alter protein sequence directly, these SNPs mainly affect individual organisms through the regulation of gene expression. The study on transcription factor binding properties over SNPs is very helpful to understand the functional consequences of SNPs.Our paper focuses on these processes: We use Bayesian model to identify SNPs, then we mapped a group of Ch IP-seq and DNA-seq data of the same cell line to the reference genome sequence, and use this method to identify SNPs; the presence of SNPs which are specific binded by transcription factor may cause allele-specific expression of particular gene, we identified the specific binding SNPs, and divided these SNPs into two groups. We studied how the type and location of SNPs affect transcription factor binding properties. We also use PWM method to identify the RNA polymerase II transcription factor binding sites; We explained how to quantify the level of transcripts and gene expression, then we use RNA-seq data of normal and MCF7 cell lines to identify genes differentially expressed between the two samples, and analyzed how SNPs affect allele-specific expression.