rs2378256 chr20:34704323 G>C

Sequence
tgtttgaacgttccaatttgtgcc[G/C]tgagccccgccgcagcggccgcac
ASB in cell types
HepG2 (hepatoblastoma) K562 (myelogenous leukemia)
ASB for transcription factors
CREB1_HUMAN RBM25_HUMAN ZN629_HUMAN STAG1_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
CREB1_HUMAN 0.11 1.26 1.001.0·10-4 1.53 -3.42 Discordant
RBM25_HUMAN -0.12 1.23 1.000.03 1.50 n/a n/a
ZN629_HUMAN 1.42 n/a 0.031.00 2.00 n/a n/a
STAG1_HUMAN -0.09 1.14 1.000.04 2.33 n/a n/a
TFAP4_HUMAN -2.87 1.84 1.000.05 1.50 n/a No Hit
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Motif analysis

CREB1_HUMAN Discordant
CREB1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Amygdala,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Liver,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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