rs4808304 chr19:14690110 T>C

Sequence
gctgtgctgcgcggcgcggcgcgg[T/C]gcggcacggcacggtgggagtgtc
ASB in cell types
HepG2 (hepatoblastoma) K562 (myelogenous leukemia) neural cell HEK293 (embryonic kidney)
ASB for transcription factors
GABP1_HUMAN SP130_HUMAN SP1_HUMAN GATD1_HUMAN

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
GABP1_HUMAN 1.83 -3.17 1.9·10-31.00 3.67 n/a n/a
SP130_HUMAN 2.40 -2.08 3.5·10-31.00 1.00 n/a n/a
SP1_HUMAN 1.71 -1.18 0.011.00 1.33 -0.85 Weak Concordant
GATD1_HUMAN 2.36 -2.38 0.031.00 1.00 n/a n/a
ELF1_HUMAN 1.28 -0.08 0.041.00 1.50 n/a No Hit
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Motif analysis

SP1_HUMAN Weak Concordant
SP1_HUMAN pic

Genetic associations

GTEx eQTL Artery_Aorta Artery_Tibial Brain_Caudate_basal_ganglia Brain_Cortex Brain_Hippocampus Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia Colon_Sigmoid Esophagus_Gastroesophageal_Junction Esophagus_Muscularis Heart_Left_Ventricle Nerve_Tibial Skin_Sun_Exposed_Lower_leg Testis Thyroid Whole_Blood

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