rs6029588 chr20:41249980 A>G

Sequence
atgggagttctgccgacaatacca[A/G]gccagctggaagcaccaacaaggg
ASB in cell types
GM18526 (B – cells Lymphoblastoid Cell Lines) IPSC-derived bipolar neuron bipolar neuron K562 (myelogenous leukemia)
ASB for transcription factors
ESR1_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
ESR1_HUMAN -0.44 2.27 1.000.03 2.00 3.85 Concordant
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Motif analysis

ESR1_HUMAN Concordant
ESR1_HUMAN pic

Genetic associations

GRASP adiponectin levels,  body mass index (bmi),  infant head circumference,  ldl cholesterol,  mitral annular calcium,  total cholesterol,  triglycerides,  waist hip ratio
GTEx eQTL Artery_Aorta,  Artery_Tibial,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Liver,  Pancreas,  Pituitary,  Thyroid

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