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rs740024 chr12:47988499 A>C

Sequence
ttcactgtggtaattattattttc[A/C]aaaggtcagcccccctcaccttcc
ASB in cell types
cranial neural crest cells K562 (myelogenous leukemia)
ASB for transcription factors
COT1_HUMAN SIX2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) 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
COT1_HUMAN 3.32 n/a 1.3·10-121.00 2.00 n/a No Hit
SIX2_HUMAN 1.28 n/a 0.041.00 1.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP cystatin c in serum microalbuminuria urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Artery_Aorta Artery_Tibial Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Nucleus_accumbens_basal_ganglia Brain_Substantia_nigra Breast_Mammary_Tissue Cells_Cultured_fibroblasts Colon_Sigmoid Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Lung Muscle_Skeletal Nerve_Tibial Pancreas Pituitary Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid Whole_Blood

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