rs62241279 chr3:19947075 A>G

Sequence
gaaggagcaggcggactggcgatg[A/G]tgggaagtgacgaagtggcgcagt
ASB in cell types
HEK293 (embryonic kidney) MDM(monocyte derived macrophages) CD14+ monocytes HUVEC-C (HUVEC, umbilical vein endothelial cells)
ASB for transcription factors
SPI1_HUMAN STAT1_HUMAN RAD51_HUMAN TF65_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
SPI1_HUMAN 2.26 0.25 1.2·10-111.00 1.25 -0.28 Weak Concordant
STAT1_HUMAN 3.79 0.51 4.2·10-71.00 1.67 -2.47 Concordant
RAD51_HUMAN 0.66 -0.66 3.3·10-51.00 1.00 n/a n/a
TF65_HUMAN 2.20 -4.40 2.4·10-41.00 2.00 n/a No Hit
ANDR_HUMAN 2.74 0.20 3.4·10-41.00 1.62 n/a No Hit
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Motif analysis

STAT1_HUMAN Concordant
STAT1_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_Substantia_nigra,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  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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