rs117749248 chr8:17246516 C>T

Sequence
aaccccttgacaaacccccagccc[C/T]agttacccagcccccaacccgccg
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma)
ASB for transcription factors
IKZF1_HUMAN CREB1_HUMAN PRDM9_HUMAN GLIS2_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
IKZF1_HUMAN -1.70 2.05 1.003.6·10-3 1.00 n/a n/a
CREB1_HUMAN -2.29 1.56 1.000.01 1.50 n/a No Hit
PRDM9_HUMAN -2.11 2.60 1.000.02 1.00 n/a No Hit
GLIS2_HUMAN -1.66 2.71 1.000.03 2.00 0.72 Weak Concordant
RBM25_HUMAN 1.36 0.69 0.040.74 1.00 n/a n/a
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Motif analysis

GLIS2_HUMAN Weak Concordant
GLIS2_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Anterior_cingulate_cortex_BA24 Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus Brain_Hypothalamus Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia Brain_Spinal_cord_cervical_c-1 Breast_Mammary_Tissue Colon_Sigmoid Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Muscularis Lung Nerve_Tibial Pancreas Pituitary Prostate Spleen Stomach Testis Thyroid Whole_Blood

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