rs3751384 chr13:49549486 G>C

Sequence
agacaggaggcgccacgagacggc[G/C]ggagtggcaaagcaggcaaacacg
ASB in cell types
foreskin keratinocyte
ASB for transcription factors
CTCF_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) ASB
color scale alt
-log10 FDR of Alt (C) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 0.43 1.29 1.009.7·10-6 1.49 -2.95 Discordant
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Motif analysis

CTCF_HUMAN Discordant
CTCF_HUMAN pic

Genetic associations

GRASP myopia
GTEx eQTL Adipose_Subcutaneous,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellum,  Brain_Cortex,  Brain_Hippocampus,  Brain_Putamen_basal_ganglia,  Brain_Spinal_cord_cervical_c-1,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Esophagus_Mucosa,  Liver,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Thyroid,  Whole_Blood

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