rs12187928 chr5:42927983 G>T

Sequence
ctgttgacctgtttactgtctcgt[G/T]tctcaccaagtcggactaccattg
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
TBX21_HUMAN BHE40_HUMAN IKZF1_HUMAN IKZF2_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
TBX21_HUMAN 3.50 n/a 1.1·10-51.00 1.00 1.14 Weak Discordant
BHE40_HUMAN 2.71 -4.09 3.5·10-41.00 1.33 -2.53 Concordant
IKZF1_HUMAN 2.94 0.08 4.8·10-40.81 1.33 n/a n/a
IKZF2_HUMAN 2.25 -1.69 1.5·10-31.00 1.00 n/a n/a
COT1_HUMAN 2.15 -1.86 4.6·10-31.00 1.00 n/a No Hit
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Motif analysis

TBX21_HUMAN Weak Discordant
TBX21_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration,  advanced age-related macular degeneration (choroidal neovascularization) vs. no amd,  hdl cholesterol,  infant head circumference,  parkinsons disease,  triglycerides,  triglycerides change with statins
GTEx eQTL Adipose_Subcutaneous,  Artery_Tibial,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Esophagus_Mucosa,  Nerve_Tibial,  Pancreas,  Stomach,  Testis

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