rs6020348 chr20:50186457 G>A

Sequence
tatactcaggcaagtttcactacc[G/A]gtcctgagcacctcccgtctccaa
ASB in cell types
THP-1 (acute monocytic leukemia) K562 (myelogenous leukemia) Kelly (neuroblastoma) HepG2 (hepatoblastoma)
ASB for transcription factors
RBM25_HUMAN C2D1A_HUMAN RAD21_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
RBM25_HUMAN 2.81 -5.04 2.2·10-31.00 2.00 n/a n/a
C2D1A_HUMAN 2.82 n/a 0.011.00 2.00 n/a n/a
RAD21_HUMAN 0.89 0.92 0.830.02 1.09 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP microalbuminuria
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hippocampus,  Brain_Nucleus_accumbens_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Stomach,  Testis,  Thyroid,  Whole_Blood

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