rs11643304 chr16:88737526 A>C

Sequence
accggcctccgccccgccccccgc[A/C]cccagccataccttgcagtgtgcg
ASB in cell types
HEK293 (embryonic kidney) K562 (myelogenous leukemia) CD14+ monocytes GM18505 (female B-cells Lymphoblastoid Cell Lines)
ASB for transcription factors
ZFHX2_HUMAN VEZF1_HUMAN STAT1_HUMAN PATZ1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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
ZFHX2_HUMAN n/a 2.75 1.002.8·10-5 1.50 n/a n/a
VEZF1_HUMAN 2.54 n/a 2.8·10-41.00 3.00 3.19 Discordant
STAT1_HUMAN 3.03 n/a 4.5·10-41.00 2.00 n/a No Hit
PATZ1_HUMAN -3.42 2.35 1.001.8·10-3 1.50 2.08 Concordant
GLIS2_HUMAN -1.93 2.29 1.000.01 1.00 n/a n/a
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Motif analysis

SP3_HUMAN Concordant
SP3_HUMAN pic

Genetic associations

GTEx eQTL Artery_Tibial Brain_Anterior_cingulate_cortex_BA24 Breast_Mammary_Tissue Cells_Cultured_fibroblasts Heart_Left_Ventricle Muscle_Skeletal Nerve_Tibial Skin_Sun_Exposed_Lower_leg Stomach Thyroid

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