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rs2094108 chr13:49597414 G>A

Sequence
ttcctatgtgctaatctccatctc[G/A]cagttggcttccggggaacatctt
ASB in cell types
CD34+ bone marrow cell-derived erythroid progenitors
ASB for transcription factors
GATA1_HUMAN TAL1_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
GATA1_HUMAN -1.77 2.75 1.002.6·10-7 1.83 0.50 Weak Concordant
TAL1_HUMAN 1.01 2.26 1.001.3·10-3 1.75 -0.53 Weak Discordant
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Motif analysis

GATA1_HUMAN Weak Concordant
GATA1_HUMAN pic

Genetic associations

GRASP myopia
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Artery_Aorta Artery_Tibial Brain_Amygdala Brain_Caudate_basal_ganglia 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 Brain_Substantia_nigra Breast_Mammary_Tissue Cells_Cultured_fibroblasts Cells_EBV-transformed_lymphocytes Colon_Sigmoid Colon_Transverse Esophagus_Mucosa Esophagus_Muscularis Lung Muscle_Skeletal Nerve_Tibial Pancreas Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Small_Intestine_Terminal_Ileum Spleen Thyroid Whole_Blood

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