rs3754319 chr1:16352633 C>T
- Sequence
gagggtggaatgcgctcgggggag[C/T]taggcctccgcacccgccttcgcc
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) MCF7L-P(immortalized breast epithelial cell line)
- ASB for transcription factors
- EGR1_HUMAN ESR1_HUMAN EGR2_HUMAN ZFHX2_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| EGR1_HUMAN | -0.24 | 2.02 | 1.12 | 0.41 | Weak Concordant | |||
| ESR1_HUMAN | 1.31 | -0.58 | 2.00 | -0.54 | Weak Concordant | |||
| EGR2_HUMAN | -0.85 | 1.85 | 2.00 | n/a | No Hit | |||
| ZFHX2_HUMAN | n/a | 1.38 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
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, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood