rs73214155 chr12:121016539 T>A

Sequence
tcaagcctccttcatgacgtcacg[T/A]gagaggagaggcgcgaggcattgt
ASB in cell types
HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) CD14+ monocytes K562 (myelogenous leukemia)
ASB for transcription factors
BHE40_HUMAN TBP_HUMAN RAD51_HUMAN STAT1_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
BHE40_HUMAN 3.00 n/a 1.4·10-71.00 1.33 -5.40 Concordant
TBP_HUMAN 1.72 -0.47 2.6·10-61.00 1.06 n/a No Hit
RAD51_HUMAN 2.96 -1.64 3.8·10-61.00 1.00 n/a n/a
STAT1_HUMAN 2.13 -0.17 1.0·10-31.00 2.33 n/a No Hit
SRF_HUMAN -2.00 2.37 1.000.03 1.00 n/a No Hit
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Motif analysis

BHE40_HUMAN Concordant
BHE40_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus 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 Kidney_Cortex Liver Lung Minor_Salivary_Gland Muscle_Skeletal Nerve_Tibial Ovary Pancreas Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid Uterus Vagina Whole_Blood

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