rs190144 chr17:44087216 A>G

Sequence
aactggcagcctaggacagacaca[A/G]ctctgagatcaacacaaacagctc
ASB in cell types
K562 (myelogenous leukemia) BJ1-hTERT (Human fibroblast telomerase immortalized cell line)
ASB for transcription factors
SP7_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
SP7_HUMAN -2.73 1.74 1.000.05 1.50 n/a n/a
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Motif analysis

No data available

Genetic associations

EMBL-EBI heel bone mineral density
GRASP salmonella-induced pyroptosis
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Adrenal_Gland Artery_Aorta Artery_Coronary Artery_Tibial Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Hypothalamus 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 Lung Muscle_Skeletal Nerve_Tibial Pancreas Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid Whole_Blood

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