rs3750619 chr10:110919278 G>A

Sequence
agcttcaacagtaacttccgatcg[G/A]ggagttgtcactctaccctgctgg
ASB in cell types
adult erythroblasts HCASMC (Human coronary artery smooth muscle cells)
ASB for transcription factors
RBBP5_HUMAN TCF21_HUMAN TF65_HUMAN ELF1_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
RBBP5_HUMAN 1.79 n/a 0.021.00 2.50 n/a n/a
TCF21_HUMAN 1.89 n/a 0.031.00 2.50 n/a No Hit
TF65_HUMAN 1.49 -0.69 0.031.00 2.67 n/a No Hit
ELF1_HUMAN 1.81 -1.54 0.041.00 1.00 -0.83 Weak Concordant
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Motif analysis

ELF1_HUMAN Weak Concordant
ELF1_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration (geographic atrophy),  hdl cholesterol,  hypertension (early onset hypertension),  infant head circumference,  total cholesterol
GTEx eQTL Cells_Cultured_fibroblasts

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