rs739518 chr7:107743682 G>A
- Sequence
aggaaacaagcgctcgctgacccc[G/A]ggggattccaaaccgttactccgc
- ASB in cell types
- K562 (myelogenous leukemia) HAEC (human aortic endothelial cells) HUVEC-C (HUVEC, umbilical vein endothelial cells) HepG2 (hepatoblastoma)
- ASB for transcription factors
- TF65_HUMAN NRF1_HUMAN SUMO2_HUMAN P66B_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 | 2.80 | 0.31 | 2.07 | -2.30 | Concordant | |||
| NRF1_HUMAN | -0.05 | 2.37 | 1.63 | n/a | No Hit | |||
| SUMO2_HUMAN | -0.23 | 2.08 | 1.50 | n/a | n/a | |||
| P66B_HUMAN | -2.99 | 2.06 | 1.50 | n/a | n/a | |||
| AHR_HUMAN | 2.07 | -0.53 | 1.00 | 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_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