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rs116749252 chr4:52862188 C>T

Sequence
ggggctccgcactgactccaggcg[C/T]ctccgggggcgtcgcgcgcgcgga
ASB in cell types
K562 (myelogenous leukemia)
ASB for transcription factors
EGR1_HUMAN RING2_HUMAN MGAP_HUMAN HDAC1_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
EGR1_HUMAN -2.76 2.75 1.007.9·10-5 2.25 0.75 Weak Concordant
RING2_HUMAN n/a 2.68 1.003.3·10-3 2.00 n/a n/a
MGAP_HUMAN n/a 2.44 1.000.03 2.00 n/a n/a
HDAC1_HUMAN n/a 1.81 1.000.04 2.00 n/a n/a
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Motif analysis

EGR1_HUMAN Weak Concordant
EGR1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Artery_Aorta Artery_Tibial Cells_Cultured_fibroblasts Colon_Sigmoid Esophagus_Mucosa Heart_Atrial_Appendage Lung Muscle_Skeletal Nerve_Tibial Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Stomach Thyroid Whole_Blood

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