rs192228 chr16:3457949 G>T

Sequence
cgctcccaacatggcggcagcgcc[G/T]gcctcagggggcggggccacgtgg
ASB in cell types
HEK293 (embryonic kidney) foreskin keratinocyte GM12878 (female B-cells lymphoblastoid cell line) MOLM14 (Adult acute myeloid leukemia)
ASB for transcription factors
CDK8_HUMAN BRD2_HUMAN HCFC1_HUMAN ELF1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
CDK8_HUMAN 2.31 -1.88 1.2·10-51.00 1.00 n/a n/a
BRD2_HUMAN 2.73 -1.98 8.0·10-51.00 1.00 n/a n/a
HCFC1_HUMAN 1.72 n/a 5.1·10-41.00 3.00 n/a n/a
ELF1_HUMAN 0.74 -0.67 1.2·10-31.00 1.25 n/a No Hit
BRD4_HUMAN 2.63 -5.41 1.3·10-31.00 1.50 n/a n/a
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous Artery_Aorta Artery_Tibial Brain_Cerebellar_Hemisphere Cells_Cultured_fibroblasts Esophagus_Mucosa Esophagus_Muscularis Muscle_Skeletal Skin_Sun_Exposed_Lower_leg Thyroid Whole_Blood

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