rs412775 chr21:36567503 T>C

Sequence
tttaactcaggggccttccttaat[T/C]acagcacgattacatgaccacttt
ASB in cell types
HKC8 (kidney proximal tubule cell line)
ASB for transcription factors
EPAS1_HUMAN E2F8_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) ASB
color scale alt
-log10 FDR of Alt (C) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
EPAS1_HUMAN 3.09 -3.23 2.6·10-41.00 1.00 n/a No Hit
E2F8_HUMAN 2.65 n/a 9.9·10-31.00 1.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP advanced age-related macular degeneration,  advanced age-related macular degeneration (choroidal neovascularization) vs. no amd,  advanced age-related macular degeneration (geographic atrophy),  irritible bowel syndrome,  ldl cholesterol change with statins,  rheumatoid arthritis,  salmonella-induced pyroptosis,  total cholesterol

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