rs1864112 chr19:17338152 A>C

Sequence
cggccacgccctccgaattctcac[A/C]gcaccccgagacctgccccttgct
ASB in cell types
HEK293 (embryonic kidney)
ASB for transcription factors
SP3_HUMAN ZN600_HUMAN KLF8_HUMAN ZEB2_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
SP3_HUMAN n/a 4.03 1.001.8·10-5 2.00 n/a No Hit
ZN600_HUMAN n/a 2.50 1.004.4·10-4 2.00 n/a n/a
KLF8_HUMAN n/a 3.65 1.001.4·10-3 2.00 3.43 Concordant
ZEB2_HUMAN n/a 3.42 1.002.5·10-3 2.00 n/a No Hit
ZN189_HUMAN n/a 2.68 1.004.9·10-3 2.00 n/a No Hit
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Motif analysis

KLF8_HUMAN Concordant
KLF8_HUMAN pic

Genetic associations

GRASP chronic kidney disease,  hdl cholesterol,  triglycerides
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  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,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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