rs13138404 chr4:87391352 C>T

Sequence
cctagttctgctttgcgcagcccc[C/T]acgcggtgtgtggccgcgattgtc
ASB in cell types
HepG2 (hepatoblastoma) MS-1 (Small cell lung carcinoma) CD34+ hematopoietic stem cells spleen
ASB for transcription factors
CTCF_HUMAN TIF1B_HUMAN FOXK2_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
CTCF_HUMAN 1.51 -0.06 7.3·10-131.00 1.38 -3.10 Concordant
TIF1B_HUMAN -4.84 2.74 1.000.02 2.00 n/a n/a
FOXK2_HUMAN 1.69 -0.81 0.041.00 1.25 n/a No Hit
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration,  advanced age-related macular degeneration (geographic atrophy),  chronic kidney disease,  height,  salmonella-induced pyroptosis,  triglycerides,  years of education
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Mucosa,  Esophagus_Muscularis,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Testis,  Thyroid,  Whole_Blood

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