The study identifies rs2535629 as a plausibly causal regulatory variant at the 3p21.1 schizophrenia risk locus and demonstrates the regulatory mechanisms and biological effects of this functional variant, suggesting that this functional variant confers schizophrenia risk by altering CTCF binding and regulating expression of SFMBT1, a distal gene which plays important role in schizophrenia by regulating neurodevelopment and synaptic morphogenesis. The gene discussed is CTCF; the disease is schizophrenia.