rs17258783 chr9:34253099 C>T

Sequence
ccgggaagcaccaataaggatgcc[C/T]cctggcggtcagatgaggcactgt
ASB in cell types
neural cell GM19193 (female B-cells Lymphoblastoid Cell Lines) HT1080 (fibrosarcoma) SK-N-SH (neuroblastoma)
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN STAG1_HUMAN SMC3_HUMAN

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
CTCF_HUMAN 2.15 0.18 5.1·10-751.00 1.45 -4.00 Concordant
RAD21_HUMAN 2.30 0.88 1.8·10-81.00 1.19 n/a n/a
STAG1_HUMAN 1.99 -3.46 1.3·10-31.00 3.11 n/a n/a
SMC3_HUMAN 1.45 0.25 6.5·10-31.00 1.00 n/a n/a
STAT1_HUMAN 2.11 n/a 0.041.00 2.00 n/a No Hit
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd parkinsons disease urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous Adipose_Visceral_Omentum Artery_Aorta Artery_Coronary Artery_Tibial Brain_Anterior_cingulate_cortex_BA24 Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Brain_Hippocampus 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 Muscle_Skeletal Nerve_Tibial Skin_Sun_Exposed_Lower_leg Testis

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