rs7214719 chr17:27256425 A>G

Sequence
ttctggaggtcaaggagttccatt[A/G]ttggttcatttcccagaacaattt
ASB in cell types
upper lobe of left lung TTC-1240 (Rhabdoid tumor of the kidney)
ASB for transcription factors
EP300_HUMAN SMRC1_HUMAN

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
EP300_HUMAN 2.69 0.22 4.3·10-50.96 2.75 n/a n/a
SMRC1_HUMAN -0.57 1.66 1.000.04 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP advanced age-related macular degeneration advanced age-related macular degeneration (geographic atrophy) body mass index (bmi) hdl cholesterol height infant head circumference ldl cholesterol microalbuminuria total cholesterol urinary albumin-to-creatinine ratio
GTEx eQTL Cells_Cultured_fibroblasts Esophagus_Muscularis Nerve_Tibial Thyroid Whole_Blood

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