rs20549 chr16:67936027 A>G

Sequence
cgcggggctcgcggcccgtagata[A/G]cgcgtgtagctccatcttggacgc
ASB in cell types
K562 (myelogenous leukemia) HepG2 (hepatoblastoma) CD14+ monocytes
ASB for transcription factors
STAT1_HUMAN CLOCK_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) ASB
color scale alt
-log10 FDR of Alt (G) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
STAT1_HUMAN 2.02 0.17 8.4·10-31.00 2.33 n/a No Hit
CLOCK_HUMAN 2.52 -1.55 0.051.00 2.00 -0.85 Weak Concordant
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Motif analysis

CLOCK_HUMAN Weak Concordant
CLOCK_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration,  advanced age-related macular degeneration (geographic atrophy),  hdl cholesterol,  red blood cell count (rbc),  total cholesterol,  waist hip ratio
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,  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,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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