rs2090116 chr4:25372749 T>G

Sequence
gagtgaaacaacagaacgagaagt[T/G]tcacaatgtccttccatacaatgt
ASB in cell types
HepG2 (hepatoblastoma)
ASB for transcription factors
CEBPA_HUMAN SP130_HUMAN SOX13_HUMAN FOXP1_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CEBPA_HUMAN 2.45 -2.10 7.8·10-61.00 1.33 -1.72 Weak Concordant
SP130_HUMAN 3.19 -2.85 1.8·10-51.00 1.00 n/a n/a
SOX13_HUMAN 2.33 -3.73 6.9·10-41.00 1.50 n/a No Hit
FOXP1_HUMAN 2.48 -1.95 1.0·10-31.00 1.25 n/a No Hit
ARI4B_HUMAN 3.08 -3.42 1.5·10-31.00 1.00 n/a n/a
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Motif analysis

RARA_HUMAN Discordant
RARA_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  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_Hippocampus,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Brain_Spinal_cord_cervical_c-1,  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,  Minor_Salivary_Gland,  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,  Uterus,  Vagina,  Whole_Blood

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