rs372648 chr17:58659424 A>C
- Sequence
gaaactaccgcttcttcgtatgac[A/C]catctcagactacaccttctttgg
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) K562 (myelogenous leukemia) MCF7 WS8 cells GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- FOXA1_HUMAN SUZ12_HUMAN ESR1_HUMAN CREB1_HUMAN
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-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (C) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| FOXA1_HUMAN | 0.13 | 1.96 | 3.47 | n/a | No Hit | |||
| SUZ12_HUMAN | n/a | 1.15 | 6.00 | n/a | n/a | |||
| ESR1_HUMAN | 0.35 | 1.06 | 4.80 | 2.83 | Concordant | |||
| CREB1_HUMAN | -0.06 | 0.69 | 3.06 | n/a | No Hit | |||
| EGR1_HUMAN | 2.05 | -1.33 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP birth weight, chronic kidney disease, college completion, diastolic blood pressure (dbp), mitral annular calcium, serum creatinine, systolic blood pressure (sbp), 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_Hippocampus, 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, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Kidney_Cortex, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood