rs1858800 chr16:72990377 C>T

Sequence
agcccatgtctcaggctgcaagaa[C/T]gttatcagtctcacacatcgtgcc
ASB in cell types
SK-N-SH (neuroblastoma) HEK293 (embryonic kidney) embryonic kidney renal cortex
ASB for transcription factors
GATA3_HUMAN GCR_HUMAN EP300_HUMAN P63_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (C) ASB
color scale alt
-log10 FDR of Alt (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
GATA3_HUMAN n/a 3.19 1.002.0·10-7 1.50 1.33 Weak Concordant
GCR_HUMAN n/a 1.98 1.003.0·10-4 2.00 n/a No Hit
EP300_HUMAN -0.05 1.10 1.006.5·10-4 1.33 n/a n/a
P63_HUMAN -0.81 1.73 1.008.4·10-3 1.17 n/a No Hit
CREB1_HUMAN -2.34 2.61 1.000.02 1.17 n/a No Hit
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Motif analysis

GATA3_HUMAN Weak Concordant
GATA3_HUMAN pic

Genetic associations

EMBL-EBI estimated glomerular filtration rate,  hypospadias
GRASP aortic valve calcium,  autism,  bipolar disorder,  chronic kidney disease,  cystatin c in serum,  hdl cholesterol change with statins,  hip bone mineral density (bmd),  parkinsons disease,  resistance to kuru in aged women despite likely exposure,  serum creatinine,  spine bone mineral density (bmd),  sporadic creutzfeldt-jakob disease,  triglycerides,  tuberculosis with late age of onset
GTEx eQTL Adipose_Subcutaneous,  Cells_Cultured_fibroblasts,  Esophagus_Mucosa,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg

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