rs374431 chr19:58279347 G>C
- Sequence
gccgggattccaaccaggcgcctg[G/C]cccccgaatgcgcatgctccacgc
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) HCC1954 (ductal breast carcinoma)
- ASB for transcription factors
- NRF1_HUMAN ZBT17_HUMAN REST_HUMAN SMCA4_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| NRF1_HUMAN | 1.94 | 0.14 | 1.92 | 5.51 | Discordant | |||
| ZBT17_HUMAN | 3.45 | n/a | 4.00 | n/a | No Hit | |||
| REST_HUMAN | 1.63 | -0.55 | 1.50 | n/a | No Hit | |||
| SMCA4_HUMAN | 1.54 | -0.94 | 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_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, 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, Minor_Salivary_Gland, Muscle_Skeletal, 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, Whole_Blood