rs4801273 chr19:58488906 A>G

Sequence
ccaatagcaggtattggtgaggaa[A/G]tgaataccaggacctgtgcatatg
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) GM12891 (male B- cells lymphoblastoid cell line)
ASB for transcription factors
SPI1_HUMAN MEF2B_HUMAN COT1_HUMAN TBX21_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

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 -4.52 2.87 1.001.8·10-10 1.50 6.15 Concordant
MEF2B_HUMAN -2.72 2.97 1.005.5·10-4 1.00 n/a No Hit
COT1_HUMAN -2.60 2.70 1.005.3·10-3 1.00 n/a No Hit
TBX21_HUMAN -1.73 2.12 1.000.01 1.00 n/a No Hit
SMCA5_HUMAN n/a 2.67 1.000.02 1.50 n/a n/a
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Motif analysis

SPI1_HUMAN Concordant
SPI1_HUMAN pic

Genetic associations

GRASP cystatin c in serum,  prop taste detection threshold,  urinary albumin-to-creatinine ratio
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,  Brain_Substantia_nigra,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  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,  Whole_Blood

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