rs2027546 chr1:3822708 T>A

Sequence
gtgtacgaggcggccgtccccact[T/A]gcctgctgagtcactgcgtagtgc
ASB in cell types
K562 (myelogenous leukemia)
ASB for transcription factors
MNT_HUMAN HDAC1_HUMAN ZN316_HUMAN NFE2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
MNT_HUMAN -1.48 2.11 1.002.5·10-5 1.00 -2.93 Discordant
HDAC1_HUMAN 0.08 2.98 1.002.4·10-4 1.17 n/a n/a
ZN316_HUMAN -0.40 2.35 1.009.1·10-4 1.00 n/a No Hit
NFE2_HUMAN -0.00 2.25 1.005.0·10-3 1.42 0.18 Weak Concordant
MAFG_HUMAN -3.85 2.53 1.008.5·10-3 1.33 0.62 Weak Concordant
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Motif analysis

MAFG_HUMAN Weak Concordant
MAFG_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Caudate_basal_ganglia Brain_Cerebellum Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia 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 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 Thyroid Vagina Whole_Blood

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