rs4384 chr22:38176433 G>C

Sequence
cccgaggtggaaatcaggcctcac[G/C]agccccagctgctgacgacaggat
ASB in cell types
BEAS-2B (bronchial epithelium) primary endothelial colony-forming cells
ASB for transcription factors
GCR_HUMAN TAL1_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
GCR_HUMAN -0.50 1.55 1.002.5·10-14 1.53 n/a No Hit
TAL1_HUMAN -2.50 1.74 1.002.5·10-3 1.50 2.31 Concordant
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Motif analysis

TAL1_HUMAN Concordant
TAL1_HUMAN pic

Genetic associations

GRASP myopia
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Lung,  Nerve_Tibial,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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