rs2974929 chr1:155227477 T>C
- Sequence
gggcgggactggagaatggggccc[T/C]gcgcactaggcgcggaagtcaaga
- ASB in cell types
- HeLa S3 (cervical adenocarcinoma) HepG2 (hepatoblastoma) GM12878 (female B-cells) mammary epithelial cells
- ASB for transcription factors
- NRF1_HUMAN PKNX1_HUMAN CHD2_HUMAN BC11B_HUMAN
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-log10 FDR of Ref (T) 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 | 1.98 | -0.91 | 1.86 | -2.47 | Concordant | |||
| PKNX1_HUMAN | 0.80 | -0.85 | 1.25 | n/a | No Hit | |||
| CHD2_HUMAN | 0.11 | 2.27 | 1.25 | n/a | n/a | |||
| BC11B_HUMAN | -0.45 | 1.90 | 2.00 | n/a | n/a | |||
| CTCF_HUMAN | 0.61 | 0.59 | 1.28 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Putamen_basal_ganglia, 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, Liver, 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, Vagina, Whole_Blood