rs61927768 chr12:50504945 G>A

Sequence
tcagcctgactgggctggagaggc[G/A]gtgcgtcctcctggccggggggcg
ASB in cell types
MCF7 (Invasive ductal breast carcinoma) HepG2 (hepatoblastoma) MCF7L-P(immortalized breast epithelial cell line) CD14+ monocytes
ASB for transcription factors
CTCF_HUMAN MAZ_HUMAN STAT1_HUMAN MNT_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
CTCF_HUMAN 0.52 1.09 1.002.6·10-8 1.33 0.27 Weak Concordant
MAZ_HUMAN -4.28 3.97 1.006.3·10-7 1.00 -0.59 Weak Discordant
STAT1_HUMAN 3.10 0.18 1.3·10-61.00 2.00 n/a No Hit
MNT_HUMAN 0.05 2.15 1.001.7·10-3 1.33 n/a No Hit
T2FA_HUMAN -3.94 2.55 1.002.4·10-3 1.50 n/a n/a
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Motif analysis

MAZ_HUMAN Weak Discordant
MAZ_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 Colon_Sigmoid Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Lung Minor_Salivary_Gland Muscle_Skeletal Nerve_Tibial Ovary Pancreas Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Stomach Testis Thyroid Whole_Blood

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