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rs2027349 chr1:150067621 A>G

Sequence
caggccgcaggtgggtggagaata[A/G]cgcccgcgcgtggcagcggcccag
ASB in cell types
HEK293 (embryonic kidney) Peyer's patch spleen upper lobe of left lung
ASB for transcription factors
CTCF_HUMAN GLIS1_HUMAN PRDM9_HUMAN TBX21_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
CTCF_HUMAN -0.38 2.24 1.005.1·10-27 1.29 2.31 Concordant
GLIS1_HUMAN n/a 2.64 1.008.0·10-4 2.00 n/a n/a
PRDM9_HUMAN -0.05 1.43 1.007.6·10-3 1.33 n/a n/a
TBX21_HUMAN -1.18 1.28 1.009.0·10-3 1.33 n/a No Hit
SCRT2_HUMAN n/a 2.42 1.000.01 2.00 n/a n/a
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GRASP birth weight chronic kidney disease obesity with early age of onset (age >2) serum creatinine
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Artery_Aorta Artery_Tibial Brain_Anterior_cingulate_cortex_BA24 Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Frontal_Cortex_BA9 Cells_Cultured_fibroblasts Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Muscle_Skeletal Nerve_Tibial Pituitary Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Testis Thyroid Whole_Blood

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