rs13317 chr8:38411996 T>C

Sequence
atgttctcctgcacttagaagcac[T/C]ggcaaaaccatgcccacatagagg
ASB in cell types
foreskin keratinocyte 2588 (Lymphoblastoid Cell Lines)
ASB for transcription factors
CTCF_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
CTCF_HUMAN 0.92 0.69 0.020.80 1.27 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI nonsyndromic cleft lip with cleft palate
GRASP diastolic blood pressure (dbp) hip bone mineral density (bmd) microalbuminuria neuroblastoma (brain cancer) primary rhegmatogenous retinal detachment systolic blood pressure (sbp) urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous 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_Nucleus_accumbens_basal_ganglia Brain_Spinal_cord_cervical_c-1 Breast_Mammary_Tissue Cells_Cultured_fibroblasts 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 Small_Intestine_Terminal_Ileum Spleen Stomach Thyroid Whole_Blood

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