rs6031848 chr20:44885569 T>C

Sequence
tgccccggcccctgcaaccctgcc[T/C]ttcgctcttcttcctcctcccttc
ASB in cell types
HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) K562 (myelogenous leukemia)
ASB for transcription factors
RBM25_HUMAN IKZF2_HUMAN PRDM9_HUMAN NELFA_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
RBM25_HUMAN 1.95 n/a 5.8·10-31.00 3.00 n/a n/a
IKZF2_HUMAN n/a 2.74 1.000.03 6.00 n/a n/a
PRDM9_HUMAN 1.41 -0.53 0.031.00 2.00 n/a No Hit
NELFA_HUMAN 1.88 -0.98 0.041.00 2.00 n/a n/a
PKNX1_HUMAN 1.48 -3.84 0.051.00 2.00 n/a No Hit
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Motif analysis

PATZ1_HUMAN Weak Concordant
PATZ1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Adrenal_Gland Artery_Aorta Artery_Tibial Brain_Amygdala Brain_Anterior_cingulate_cortex_BA24 Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus Brain_Hypothalamus Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia Breast_Mammary_Tissue Cells_Cultured_fibroblasts Cells_EBV-transformed_lymphocytes Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Lung Muscle_Skeletal Nerve_Tibial Pancreas Pituitary Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid Whole_Blood

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