rs717863 chr1:16237140 A>G

Sequence
ccgccgccccagcccgccgggccc[A/G]cttccgccccgcctgcgtccgcct
ASB in cell types
K562 (myelogenous leukemia) macrophages form periferal blood MCF7 (Invasive ductal breast carcinoma)
ASB for transcription factors
GABP1_HUMAN SPI1_HUMAN ELF1_HUMAN GMEB1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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
GABP1_HUMAN 1.80 -1.80 2.3·10-81.00 1.00 n/a n/a
SPI1_HUMAN 1.96 0.32 3.5·10-41.00 1.82 -2.77 Concordant
ELF1_HUMAN 1.64 -0.27 4.0·10-41.00 1.53 -1.26 Weak Concordant
GMEB1_HUMAN 1.73 -1.73 9.5·10-31.00 1.00 n/a No Hit
E4F1_HUMAN 1.53 -1.53 0.021.00 1.00 -2.16 Concordant
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Motif analysis

SPI1_HUMAN Concordant
SPI1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Liver,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Thyroid,  Whole_Blood

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