Genetic loci where TF occupancy level (e.g. ChIP-seq) is significantly associated with a genetic variant.
bQTLs are useful for identifying causal variants for a disease or condition. Due to LD, many variants associated with disease do not actually cause the disease.
For example, say that 100 variants are found to be associated with HIV. None of these variants are coding, so matching these variants to proteins is impossible. Instead, the suspected mechanism is that a sequence-specific transcription factor has its binding altered by the variant.
To identify whether TF binding is altered by the condition, the ChIP-seq peaks can be compared from the different conditions to identify the bQTLs, places where binding is significantly altered due to a varyiant.
- [X] Flesh bQTLs out