rs11803622 chr1:44731005 C>T

Sequence
gttcaaacaaaatgttgtctcaca[C/T]ctcgcaacaaacacacaactttct
ASB in cell types
HepG2 (hepatoblastoma) K562 (myelogenous leukemia) HCT-116 (colon carcinoma) breast tumor
ASB for transcription factors
BRD4_HUMAN TBX3_HUMAN ESR1_HUMAN ILF3_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
BRD4_HUMAN 1.04 0.50 5.6·10-41.00 1.31 n/a n/a
TBX3_HUMAN 2.54 -1.42 8.7·10-41.00 1.00 -5.78 Concordant
ESR1_HUMAN 3.17 n/a 4.0·10-31.00 1.50 n/a No Hit
ILF3_HUMAN -0.64 0.67 1.000.02 1.00 n/a n/a
INT11_HUMAN 1.35 -1.04 0.021.00 1.00 n/a n/a
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Motif analysis

TBX3_HUMAN Concordant
TBX3_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_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid,  Uterus,  Whole_Blood

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