rs30178 chr5:132866707 T>C

Sequence
gccctgtgcgtgagtggggtctgg[T/C]tgtgcagtgttcgtggaccctggg
ASB in cell types
K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line)
ASB for transcription factors
GABPA_HUMAN CTCF_HUMAN RFOX2_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (T) 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
GABPA_HUMAN 1.95 0.10 2.1·10-51.00 1.62 n/a No Hit
CTCF_HUMAN 0.58 0.84 0.882.6·10-4 1.11 n/a No Hit
RFOX2_HUMAN 2.10 -4.38 1.3·10-31.00 2.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP adiponectin levels,  bipolar disorder,  fasting blood glucose,  infant head circumference,  triglycerides
GTEx eQTL Adipose_Subcutaneous,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Hippocampus,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Thyroid,  Whole_Blood

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