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rs228769 chr17:44115817 G>C

Sequence
tgctggggggagctggaaagccag[G/C]caggacgcggggcccattccacag
ASB in cell types
K562 (myelogenous leukemia) erythroid progenitors lymphoblastoid cells
ASB for transcription factors
CTCF_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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 0.72 0.73 0.011.00 1.39 n/a No Hit
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Motif analysis

No data available

Genetic associations

EMBL-EBI bone mineral density (hip) bone mineral density (spine)
GRASP diastolic blood pressure (dbp) femoral neck bone mineral density (bmd) femoral neck bone mineral density (bmd) (females) femoral neck bone mineral density (bmd) (males) femoral neck bone mineral density (bmd) (postmenopausal females) lumbar spine bone mineral density (bmd) total hip bone mineral density (bmd) (postmenopausal females)
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_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 Lung Muscle_Skeletal Nerve_Tibial Pancreas Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Small_Intestine_Terminal_Ileum Spleen Stomach Testis Thyroid Whole_Blood

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