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rs68112369 chr6:26365531 T>C

Sequence
tgtgtgtgtgtacatgtgtacatg[T/C]gcacactcgcacatgcacatatgg
ASB in cell types
GM12878 (female B-cells)
ASB for transcription factors
IKZF2_HUMAN NRF1_HUMAN FOXK2_HUMAN BHE40_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) ASB
color scale alt
-log10 FDR of Alt (C) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
IKZF2_HUMAN 1.70 -1.81 1.3·10-61.00 1.33 n/a n/a
NRF1_HUMAN n/a 2.87 1.003.4·10-5 3.00 4.11 Concordant
FOXK2_HUMAN 1.56 0.79 7.4·10-41.00 2.44 n/a n/a
BHE40_HUMAN 0.56 n/a 0.021.00 1.33 n/a No Hit
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Motif analysis

NRF1_HUMAN Concordant
NRF1_HUMAN pic

Genetic associations

GRASP myopia
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 Kidney_Cortex 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 Vagina Whole_Blood

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