rs62214725 chr21:41878606 C>T

Sequence
ggccacccaccccgggtaggcacg[C/T]gtcacctgtccatccacctcgcta
ASB in cell types
T47D (invasive ductal carcinoma) primary B-CLL cells NCI-H2171 (small cell lung carcinoma)
ASB for transcription factors
BHE40_HUMAN HIF1A_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) ASB
color scale alt
-log10 FDR of Alt (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
BHE40_HUMAN -2.67 1.48 1.001.0·10-3 1.33 5.04 Concordant
HIF1A_HUMAN 0.32 2.49 0.776.2·10-3 2.00 1.91 Weak Concordant
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Motif analysis

HIF1A_HUMAN Weak Concordant
HIF1A_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Artery_Aorta Artery_Coronary Artery_Tibial Brain_Anterior_cingulate_cortex_BA24 Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus Brain_Hypothalamus Brain_Nucleus_accumbens_basal_ganglia Cells_Cultured_fibroblasts Colon_Sigmoid Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Muscle_Skeletal Nerve_Tibial Pituitary Testis Thyroid

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