rs805305 chr6:31729610 C>G

Sequence
cgcagggactggaagtccagcccg[C/G]gacccgcaggggttatgggacaga
ASB in cell types
K562 (myelogenous leukemia) HepG2 (hepatoblastoma) 2588 (Lymphoblastoid Cell Lines) GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
VEZF1_HUMAN KLF13_HUMAN STAG1_HUMAN ZF64B_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) 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
VEZF1_HUMAN n/a 2.99 1.006.1·10-4 3.00 n/a No Hit
KLF13_HUMAN n/a 1.48 1.003.1·10-3 3.00 n/a No Hit
STAG1_HUMAN 0.59 0.30 8.3·10-31.00 1.00 n/a n/a
ZF64B_HUMAN -4.94 2.87 1.009.4·10-3 2.00 5.69 Concordant
SNAI2_HUMAN 2.38 -1.98 0.021.00 1.50 n/a No Hit
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Motif analysis

ZF64B_HUMAN Concordant
ZF64B_HUMAN pic

Genetic associations

GRASP chronic kidney disease diabetic retinopathy in type 2 diabetes mellitus diastolic blood pressure (dbp) hdl cholesterol microalbuminuria rheumatoid arthritis serum creatinine systolic blood pressure (sbp) triglycerides change with statins
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 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 Vagina Whole_Blood

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