rs62223585 chr21:37073157 T>G

Sequence
agccagcgagcgcgggggcgggcg[T/G]gatcccgcggctcgcgacggcgaa
ASB in cell types
T47D (invasive ductal carcinoma) GM12878 (female B-cells lymphoblastoid cell line) CD14+ monocytes breast tumor
ASB for transcription factors
STAT1_HUMAN HIF3A_HUMAN HIF1A_HUMAN ANDR_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
STAT1_HUMAN 3.50 n/a 5.0·10-51.00 2.00 n/a No Hit
HIF3A_HUMAN 3.00 n/a 7.2·10-41.00 2.00 -4.84 Concordant
HIF1A_HUMAN 2.93 -0.82 4.5·10-31.00 2.00 -5.16 Concordant
ANDR_HUMAN 2.23 -3.24 5.1·10-31.00 2.00 n/a No Hit
ESR1_HUMAN 2.28 n/a 0.011.00 2.00 -3.02 Concordant
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Motif analysis

HIF3A_HUMAN Concordant
HIF3A_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Artery_Aorta Artery_Coronary Artery_Tibial Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Frontal_Cortex_BA9 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 Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Small_Intestine_Terminal_Ileum Spleen Stomach Testis Thyroid Uterus Whole_Blood

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