rs1800668 chr3:49358324 G>A

Sequence
agcggagcgccccgaacaagcact[G/A]taaggggaggccagcaggcgcctc
ASB in cell types
HepG2 (hepatoblastoma) WA09 (embryonic stem cells)
ASB for transcription factors
TBP_HUMAN TP53B_HUMAN TFE3_HUMAN JUN_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
TBP_HUMAN 0.07 0.73 1.001.9·10-3 1.31 3.77 Concordant
TP53B_HUMAN 2.42 -2.16 0.021.00 1.00 n/a n/a
TFE3_HUMAN 2.49 -2.22 0.021.00 1.00 n/a No Hit
JUN_HUMAN 0.07 1.46 0.830.03 3.83 n/a No Hit
NC2A_HUMAN -1.60 1.60 1.000.03 1.00 n/a n/a
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Motif analysis

TBP_HUMAN Concordant
TBP_HUMAN pic

Genetic associations

GRASP college completion,  fasting blood glucose,  fasting insulin,  homa-ir,  ldl cholesterol,  serum creatinine,  systolic blood pressure (sbp),  total cholesterol,  years of education
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  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,  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,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Vagina,  Whole_Blood

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