rs2452680 chr11:66052212 A>G

Sequence
gaccgccgaggggccactagagaa[A/G]ggtgcgtctgcggcgaatcccgtc
ASB in cell types
HEK293 (embryonic kidney) monocytes from periferal blood CD14+ monocytes adult erythroblasts
ASB for transcription factors
RBBP5_HUMAN SRBP2_HUMAN STAT1_HUMAN TF65_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
RBBP5_HUMAN 2.16 -3.43 3.5·10-41.00 1.33 n/a n/a
SRBP2_HUMAN 2.60 -0.32 6.7·10-41.00 3.00 n/a No Hit
STAT1_HUMAN 1.55 -0.25 7.6·10-41.00 1.80 n/a No Hit
TF65_HUMAN 1.48 -0.52 7.2·10-31.00 3.60 n/a No Hit
KDM6A_HUMAN 2.29 -3.73 0.021.00 1.33 n/a n/a
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Motif analysis

ZN180_HUMAN Weak Concordant
ZN180_HUMAN pic

Genetic associations

GRASP aortic valve calcium,  fasting insulin,  height,  microalbuminuria,  systolic blood pressure (sbp)
GTEx eQTL Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  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_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  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,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Uterus,  Whole_Blood

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