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rs101028 chr1:86914313 G>T

Sequence
ttcgattacccaaatcaggcactt[G/T]cctaaactccccacttctttactt
ASB in cell types
HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) breast tumor
ASB for transcription factors
RUNX3_HUMAN ESR1_HUMAN MORC2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
RUNX3_HUMAN 2.94 -3.02 1.2·10-31.00 1.00 n/a No Hit
ESR1_HUMAN 2.41 -1.65 0.031.00 2.00 n/a No Hit
MORC2_HUMAN -0.29 1.53 0.940.04 1.50 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP autism
GTEx eQTL Adipose_Subcutaneous Adrenal_Gland Artery_Aorta Artery_Tibial Brain_Anterior_cingulate_cortex_BA24 Brain_Caudate_basal_ganglia Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Frontal_Cortex_BA9 Brain_Hippocampus Brain_Nucleus_accumbens_basal_ganglia Brain_Putamen_basal_ganglia Brain_Substantia_nigra Breast_Mammary_Tissue Colon_Sigmoid Colon_Transverse Esophagus_Gastroesophageal_Junction Esophagus_Mucosa Esophagus_Muscularis Heart_Atrial_Appendage Heart_Left_Ventricle Liver Muscle_Skeletal Nerve_Tibial Pancreas Pituitary Prostate Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Stomach Testis Thyroid Whole_Blood

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