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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