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Official Journal of the Human Genome Organisation

Fig. 2 | The HUGO Journal

Fig. 2

From: The impact of cis-acting polymorphisms on the human phenotype

Fig. 2

The lactase enhancer region. a The LCT enhancer is located upstream in intron 13 of MCM6. Multiple derived alleles are found clustered in this small region, indicated by yellow boxes. Dots above the variant sites show the 4 SNPs that have been associated with LP, or shown to have function so far. The position of this region upstream of LCT is shown above the sequence. b Known transcription factor binding sites (see Lewinsky et al. 2005; Jensen et al. 2011) in the enhancer region are shown in relation to the 4 LP associated SNPs (black dots) with approximate positions relative to LCT indicated

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