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rs7547048 chr1:114511320 T>G

Sequence
tcccgagggaggcgggaactcggt[T/G]cgcgggcgcggagcggtcccggac
ASB in cell types
MCF7 (Invasive ductal breast carcinoma) GM12878 (female B-cells lymphoblastoid cell line) CD14+ monocytes K562 (myelogenous leukemia)
ASB for transcription factors
NRF1_HUMAN STAT1_HUMAN RB_HUMAN ARI1A_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) ASB
color scale alt
-log10 FDR of Alt (G) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
NRF1_HUMAN 0.12 1.77 1.003.4·10-13 1.85 7.12 Concordant
STAT1_HUMAN 3.05 n/a 1.3·10-51.00 2.00 n/a No Hit
RB_HUMAN 3.71 -0.71 2.1·10-51.00 1.00 n/a n/a
ARI1A_HUMAN -0.90 2.10 0.980.03 2.00 n/a n/a
NELFE_HUMAN -0.30 2.00 1.000.03 3.58 n/a n/a
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Motif analysis

NRF1_HUMAN Concordant
NRF1_HUMAN pic

Genetic associations

GTEx eQTL Cells_Cultured_fibroblasts

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