We identified 2 SNPs significantly associated with breast cancer risk in stage I (P<0.05), but not significantly replicated in stage II. We combined the data from stage I and stage II, and found that, compared with the rs2071095 CC genotype, AA and CA+AA genotypes were associated with significantly decreased risk of breast cancer (adjusted OR 0.83, 95% CI 0.69-0.99; adjusted OR 0.88, 95% CI 0.80-0.98, respectively). Stratified analyses showed that rs2071095 was associated with breast cancer risk in estrogen receptor (ER)-positive patients (P=0.002), but not in ER-negative ones (P=0.332). Expression levels of H19 in breast cancer cases with AA genotype were significantly lower than those with CC genotype. rs2071095 CA and AA genotypes were found to be significantly associated with decreased expression of H19 in breast cancer patients compared with the CC genotype (P = 0.027 and P < 0.001, respectively).