rs1860947 chr12:21501710 C>A

Sequence
tggtcaaggggtgtggtcaccatg[C/A]gcgtcaccgaacaacattacgagt
ASB in cell types
breast tumor GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
ESR1_HUMAN TBX21_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) 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
ESR1_HUMAN n/a 3.04 1.001.2·10-3 2.00 1.58 Weak Concordant
TBX21_HUMAN -2.13 2.27 1.000.02 1.00 n/a No Hit
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Motif analysis

ESR1_HUMAN Weak Concordant
ESR1_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration (geographic atrophy)
GTEx eQTL Muscle_Skeletal,  Skin_Sun_Exposed_Lower_leg,  Spleen

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