rs11147281 chr12:133181368 T>C

Sequence
aggaaggcctgagcttccgggtca[T/C]cttagcacgccccctcccggtggc
ASB in cell types
CD14+ monocytes K562 (myelogenous leukemia) CD34+ hematopoietic stem cells primary B-CLL cells
ASB for transcription factors
STAT1_HUMAN TIF1B_HUMAN TYY1_HUMAN RAD21_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
STAT1_HUMAN 3.32 n/a 1.1·10-41.00 2.00 n/a No Hit
TIF1B_HUMAN 3.11 0.29 3.0·10-30.79 2.00 n/a n/a
TYY1_HUMAN 1.77 0.05 3.3·10-31.00 1.44 n/a No Hit
RAD21_HUMAN 0.92 0.28 0.021.00 1.26 n/a n/a
ETS1_HUMAN 1.51 -0.23 0.031.00 1.11 n/a No Hit
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Motif analysis

VEZF1_HUMAN Weak Discordant
VEZF1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Putamen_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,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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