rs175498 chr14:75069666 G>A

Sequence
gaagccagctgagagcgcctgcgc[G/A]gctgtcggttgatggggaggtcag
ASB in cell types
HAEC (human aortic endothelial cells) HEK293 (embryonic kidney)
ASB for transcription factors
NRF1_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
NRF1_HUMAN -1.81 2.08 1.005.7·10-4 1.25 0.46 Weak Concordant
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Motif analysis

NRF1_HUMAN Weak Concordant
NRF1_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration advanced age-related macular degeneration (choroidal neovascularization) vs. no amd decrease in fev1 (in nonasthmatic participants) height homa-ir parkinsons disease rheumatoid arthritis total cholesterol change with statins years of education
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_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hypothalamus Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia Brain_Spinal_cord_cervical_c-1 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 Liver Lung Minor_Salivary_Gland Muscle_Skeletal Nerve_Tibial Ovary Pancreas Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid Whole_Blood

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