rs6565217 chr16:31072003 G>A

Sequence
tggaagtaattaaggctgaatgac[G/A]tcataagggtatggccctggtcca
ASB in cell types
HCASMC (Human coronary artery smooth muscle cells) MCF7 (Invasive ductal breast carcinoma)
ASB for transcription factors
ATF2_HUMAN CREB1_HUMAN JUN_HUMAN ATF7_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

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
ATF2_HUMAN 1.82 n/a 6.8·10-141.00 2.00 -9.03 Concordant
CREB1_HUMAN 1.73 -0.92 1.0·10-61.00 1.75 -7.52 Concordant
JUN_HUMAN 3.33 0.10 2.2·10-60.81 1.50 n/a No Hit
ATF7_HUMAN 2.28 -5.32 8.3·10-41.00 2.00 n/a n/a
E2F1_HUMAN 1.35 n/a 8.7·10-31.00 2.50 n/a No Hit
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Motif analysis

ATF2_HUMAN Concordant
ATF2_HUMAN pic

Genetic associations

GRASP body mass index (bmi),  infant head circumference,  myst1(transcript:ak024102) gene expression in normal tissue+psoriasis involved tissue,  parkinsons disease,  total cholesterol,  triglycerides,  triglycerides:hdl cholesterol 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,  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,  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,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Uterus,  Vagina,  Whole_Blood

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