rs12612312 chr2:106098259 G>C

Sequence
tctcatggcctaagagtccacctt[G/C]atggggtgctcccaatgctacact
ASB in cell types
heart left ventricle pancreas GM18526 (B – cells Lymphoblastoid Cell Lines) epithelial cell of prostate
ASB for transcription factors
CTCF_HUMAN STAG1_HUMAN RAD21_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 -0.08 1.77 1.003.3·10-32 1.32 2.06 Concordant
STAG1_HUMAN -0.26 1.38 1.003.7·10-4 1.63 n/a n/a
RAD21_HUMAN 0.51 1.46 1.001.4·10-3 1.12 n/a n/a
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GRASP height,  ldl cholesterol
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellum,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Colon_Sigmoid,  Esophagus_Mucosa,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Thyroid

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