rs7302734 chr12:124151796 G>A

Sequence
gaaaggagtgataacttctgggtc[G/A]tcgccatggcatttgtaaactgtt
ASB in cell types
K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma)
ASB for transcription factors
RFX1_HUMAN GABP1_HUMAN ZBT40_HUMAN NR2C1_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

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
RFX1_HUMAN 2.09 -2.63 1.5·10-61.00 1.67 -3.44 Concordant
GABP1_HUMAN 2.35 n/a 2.0·10-51.00 2.00 n/a n/a
ZBT40_HUMAN 3.26 n/a 6.1·10-51.00 2.00 n/a No Hit
NR2C1_HUMAN 2.03 n/a 1.1·10-41.00 2.00 1.38 Weak Discordant
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Motif analysis

RFX1_HUMAN Concordant
RFX1_HUMAN pic

Genetic associations

GRASP 2 hour glucose,  birth weight,  parkinsons disease
GTEx eQTL Adipose_Subcutaneous,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Sun_Exposed_Lower_leg,  Whole_Blood

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