rs1378941 chr15:74787809 C>A

Sequence
gaaaacctgggcatcatctgcccc[C/A]cttggaccctggctgctgcttctc
ASB in cell types
GM12878 (female B-cells lymphoblastoid cell line) MCF7 (Invasive ductal breast carcinoma)
ASB for transcription factors
CBP_HUMAN CTCF_HUMAN FOXK2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) 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
CBP_HUMAN 0.37 3.12 0.622.9·10-3 2.00 n/a n/a
CTCF_HUMAN 0.47 0.89 1.008.5·10-3 1.30 n/a No Hit
FOXK2_HUMAN n/a 3.14 1.000.02 3.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP adiponectin levels,  advanced age-related macular degeneration,  advanced age-related macular degeneration (choroidal neovascularization) vs. no amd,  body mass index (bmi),  coronary artery disease (cad),  diastolic blood pressure (dbp),  homa-b,  infant head circumference,  ldl cholesterol,  systolic blood pressure (sbp),  total cholesterol,  years of education
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Adrenal_Gland,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Cortex,  Brain_Frontal_Cortex_BA9,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  Lung,  Minor_Salivary_Gland,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Stomach,  Testis,  Thyroid,  Whole_Blood

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