rs58677849 chr20:49812971 G>C

Sequence
gagtgagtgggctttttcccgggc[G/C]gcggaggcggcggggctgggcccc
ASB in cell types
HEK293 (embryonic kidney) foreskin keratinocyte K562 (myelogenous leukemia) MOLM14 (Adult acute myeloid leukemia)
ASB for transcription factors
EGR2_HUMAN EGR1_HUMAN MED26_HUMAN ARI1A_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

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
EGR2_HUMAN 2.41 n/a 3.3·10-41.00 2.00 0.05 Weak Discordant
EGR1_HUMAN 1.36 -0.08 1.2·10-31.00 2.00 0.67 Weak Discordant
MED26_HUMAN 2.76 -2.50 2.5·10-31.00 1.00 n/a n/a
ARI1A_HUMAN -1.86 2.46 1.000.01 2.50 n/a No Hit
CDK8_HUMAN 1.37 -0.52 0.011.00 1.00 n/a n/a
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Motif analysis

EGR2_HUMAN Weak Discordant
EGR2_HUMAN pic

Genetic associations

GTEx eQTL Artery_Aorta,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Nucleus_accumbens_basal_ganglia,  Breast_Mammary_Tissue,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Thyroid,  Whole_Blood

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