rs34876489 chr8:27772714 G>C

Sequence
gggcgccatttttaatcctggcga[G/C]gcgaagtgtagtggcaaggagttt
ASB in cell types
K562 (myelogenous leukemia) adult erythroblasts HCT-116 (colon carcinoma) lymphoblastoid cells
ASB for transcription factors
TYY1_HUMAN HCFC1_HUMAN THAP1_HUMAN CTCF_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
TYY1_HUMAN 1.84 0.47 8.1·10-71.00 1.38 1.74 Weak Discordant
HCFC1_HUMAN 2.09 -0.35 3.5·10-61.00 1.83 n/a n/a
THAP1_HUMAN 3.11 n/a 5.1·10-41.00 2.00 1.43 Weak Discordant
CTCF_HUMAN 0.37 1.25 1.002.3·10-3 1.16 n/a No Hit
EHMT2_HUMAN 1.88 -2.24 3.9·10-31.00 1.75 n/a n/a
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Motif analysis

THAP1_HUMAN Weak Discordant
THAP1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Amygdala,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Brain_Spinal_cord_cervical_c-1,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Transverse,  Heart_Atrial_Appendage,  Liver,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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