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rs2682327 chr12:52970449 G>A

Sequence
tacatgccaagccccaggcagcac[G/A]tcaccagagagataatcttgagct
ASB in cell types
HEK293 (embryonic kidney)
ASB for transcription factors
GLIS1_HUMAN HIF1A_HUMAN FEZF1_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
GLIS1_HUMAN 2.54 n/a 1.9·10-31.00 2.00 n/a n/a
HIF1A_HUMAN 1.59 -1.91 0.011.00 1.50 -5.33 Concordant
FEZF1_HUMAN 2.10 -1.79 0.021.00 2.00 n/a No Hit
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Motif analysis

HIF1A_HUMAN Concordant
HIF1A_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration (geographic atrophy) birth weight height ldl cholesterol total cholesterol
GTEx eQTL Brain_Cerebellum Cells_Cultured_fibroblasts Thyroid

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