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
Items per page:
1 – 5 of 5

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

Download