rs3013 chr12:48693873 G>C

Sequence
agccttttccagaaaaggccgctc[G/C]gggttttctgaaccctctatgggc
ASB in cell types
K562 (myelogenous leukemia)
ASB for transcription factors
SMCA4_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
SMCA4_HUMAN 1.70 -0.31 0.040.85 2.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP adiponectin levels,  advanced age-related macular degeneration (geographic atrophy),  hdl cholesterol,  ldl cholesterol,  prop taste detection threshold,  refractive error
GTEx eQTL Adipose_Subcutaneous,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Hippocampus,  Breast_Mammary_Tissue,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Thyroid

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