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rs228082 chr21:42547016 G>A

Sequence
tccagtttcacacccggtgctccc[G/A]tgttgccctgtcctcgggttacgt
ASB in cell types
K562 (myelogenous leukemia) adult erythroblasts
ASB for transcription factors
RBBP5_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
RBBP5_HUMAN 1.71 -1.39 0.031.00 3.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP alzheimers disease partial epilepsy
GTEx eQTL Adipose_Visceral_Omentum Brain_Putamen_basal_ganglia Cells_Cultured_fibroblasts Colon_Sigmoid Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Left_Ventricle Liver Muscle_Skeletal Nerve_Tibial Pancreas Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Stomach Testis Thyroid

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