rs3781071 chr10:12782644 G>A

Sequence
gttccttcccccaccagcaggggg[G/A]gcatcgcttcgtcccacttcctgg
ASB in cell types
K562 (myelogenous leukemia) CTV-1 (Adult T acute lymphoblastic leukemia) MCF7 (Invasive ductal breast carcinoma) pancreas
ASB for transcription factors
CTCF_HUMAN SPI1_HUMAN SMC1A_HUMAN SMCA4_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 0.31 1.34 1.003.9·10-51 1.34 1.65 Weak Concordant
SPI1_HUMAN -0.07 1.50 1.001.3·10-4 1.24 n/a No Hit
SMC1A_HUMAN 0.38 1.76 1.001.9·10-3 1.33 n/a n/a
SMCA4_HUMAN 1.09 1.33 0.920.01 1.22 n/a n/a
ELF1_HUMAN 0.21 0.99 1.000.01 1.40 n/a No Hit
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

GRASP decrease in fev1 (in nonasthmatic participants),  lung function, forced expiratory volume in 1 second (fev1) percent predicted (in nonasthmatic participants),  parkinsons disease

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