rs2488996 chr1:1038916 A>G

Sequence
aggggtgcatgtggtttgagtttg[A/G]tttgagccaggacgggggaaggcc
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
PRD10_HUMAN FOXK2_HUMAN BHE40_HUMAN RUNX3_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (A) 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
PRD10_HUMAN -1.90 3.48 1.002.0·10-5 1.75 n/a n/a
FOXK2_HUMAN n/a 3.66 1.007.1·10-5 2.00 n/a No Hit
BHE40_HUMAN -3.70 2.30 1.002.2·10-3 1.50 n/a No Hit
RUNX3_HUMAN -2.41 2.72 1.006.1·10-3 1.00 0.17 Weak Concordant
IKZF2_HUMAN -0.88 1.50 1.009.7·10-3 1.00 n/a n/a
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Motif analysis

RUNX3_HUMAN Weak Concordant
RUNX3_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Cells_Cultured_fibroblasts,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Whole_Blood

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