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rs507905 chr19:3185565 C>T

Sequence
acctagcgcgccaggcaggcactt[C/T]cttttctctttatccccaacttcc
ASB in cell types
GM12878 (female B-cells) HUES64 (embryonic stem cells) liver HL-60 (acute myeloid leukemia)
ASB for transcription factors
GABPA_HUMAN SPI1_HUMAN ELF1_HUMAN HCFC1_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
GABPA_HUMAN 1.58 -0.30 8.4·10-81.00 1.75 -5.33 Concordant
SPI1_HUMAN 1.92 -0.02 1.4·10-71.00 1.81 -5.48 Concordant
ELF1_HUMAN 1.02 -0.47 2.0·10-61.00 1.50 -5.60 Concordant
HCFC1_HUMAN 2.61 -0.80 1.7·10-41.00 1.17 n/a n/a
THA11_HUMAN 1.32 -0.70 7.8·10-41.00 1.33 n/a No Hit
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Motif analysis

SPI1_HUMAN Concordant
SPI1_HUMAN pic

Genetic associations

GRASP cystatin c in serum
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus 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 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 Whole_Blood

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