rs2000366 chr1:20531137 G>A

Sequence
acatctcctagagtggcagggtgg[G/A]accaagcctgtcgcctcagggctc
ASB in cell types
MCF7 (Invasive ductal breast carcinoma)
ASB for transcription factors
RFX1_HUMAN FOXA1_HUMAN GATA3_HUMAN PKNX1_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
RFX1_HUMAN n/a 0.69 1.002.8·10-5 2.50 n/a No Hit
FOXA1_HUMAN 0.47 1.87 1.004.7·10-5 2.14 n/a No Hit
GATA3_HUMAN n/a 1.11 1.002.9·10-3 2.00 n/a No Hit
PKNX1_HUMAN n/a 1.56 1.004.3·10-3 2.00 n/a No Hit
BMI1_HUMAN n/a 1.03 1.000.05 2.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP arthritis including non-rheumatoid,  comorbid depressive syndrome and alcohol dependence,  fasting insulin,  homa-ir,  obesity with early age of onset (age >2),  spine bone mineral density (bmd)
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Brain_Spinal_cord_cervical_c-1,  Brain_Substantia_nigra,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Thyroid,  Uterus,  Whole_Blood

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