rs739518 chr7:107743682 G>A
- Sequence
aggaaacaagcgctcgctgacccc[G/A]ggggattccaaaccgttactccgc
- ASB in cell types
- K562 (myelogenous leukemia) HAEC (human aortic endothelial cells) HepG2 (hepatoblastoma) SK-N-SH (neuroblastoma)
- ASB for transcription factors
- TF65_HUMAN NRF1_HUMAN CTBP1_HUMAN CLOCK_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| TF65_HUMAN | 2.49 | 0.21 | 2.00 | -3.68 | Concordant | |||
| NRF1_HUMAN | 0.13 | 2.13 | 1.62 | n/a | No Hit | |||
| CTBP1_HUMAN | -1.60 | 1.38 | 1.33 | n/a | n/a | |||
| CLOCK_HUMAN | n/a | 2.24 | 2.00 | n/a | No Hit | |||
| P66B_HUMAN | -2.07 | 1.85 | 1.50 | 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_Amygdala, 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, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, 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, Uterus, Vagina, Whole_Blood