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rs610177 chr17:42553706 T>G

Sequence
gcaggttccgcggggggggtggag[T/G]ggggtgccgtcagcttggaggggc
ASB in cell types
K562 (myelogenous leukemia)
ASB for transcription factors
KAISO_HUMAN EGR1_HUMAN RING2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
KAISO_HUMAN 0.04 2.08 1.000.03 1.67 n/a No Hit
EGR1_HUMAN -1.57 1.89 1.000.04 2.00 2.30 Concordant
RING2_HUMAN n/a 2.39 1.000.05 2.00 n/a n/a
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Motif analysis

EGR1_HUMAN Concordant
EGR1_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_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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