rs1817097 chr2:130181775 G>A

Sequence
tccttagctgaatgcgcctgcgtt[G/A]tggcggcctccggcgccccaaggt
ASB in cell types
K562 (myelogenous leukemia) breast tumor U87 (glioblastoma) gastrocnemius medialis
ASB for transcription factors
NRF1_HUMAN TYY1_HUMAN CTCF_HUMAN VEZF1_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) ASB
color scale alt
-log10 FDR of Alt (A) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
NRF1_HUMAN 1.52 0.26 3.3·10-71.00 1.81 -1.50 Weak Concordant
TYY1_HUMAN 1.98 0.45 1.1·10-60.79 1.61 5.40 Discordant
CTCF_HUMAN 1.15 0.68 1.8·10-61.00 1.20 0.36 Weak Discordant
VEZF1_HUMAN 2.21 -4.08 3.4·10-31.00 2.00 n/a No Hit
E2F1_HUMAN 1.59 -1.76 0.031.00 1.67 1.47 Weak Discordant
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Motif analysis

TYY1_HUMAN Discordant
TYY1_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Amygdala,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Hippocampus,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Brain_Spinal_cord_cervical_c-1,  Brain_Substantia_nigra,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Ovary,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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