rs3754226 chr1:42959141 C>G
- Sequence
ctcagggcaagtgtgcgcacctct[C/G]tgagcctccgcggccttctctagc
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) SUM159PT (Triple negative breast cancer) adult erythroblasts
- ASB for transcription factors
- SMCA5_HUMAN KDM1A_HUMAN NRF1_HUMAN BRD2_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SMCA5_HUMAN | 4.09 | -3.75 | 1.00 | n/a | n/a | |||
| KDM1A_HUMAN | 2.15 | -0.31 | 1.00 | n/a | n/a | |||
| NRF1_HUMAN | 0.18 | 2.40 | 1.67 | -0.34 | Weak Discordant | |||
| BRD2_HUMAN | -0.33 | 2.21 | 1.20 | n/a | n/a | |||
| NFXL1_HUMAN | 3.67 | n/a | 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, 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, Kidney_Cortex, Lung, Minor_Salivary_Gland, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood