rs113529517 chr4:674564 C>A
- Sequence
tcctttccccgcagggctgggggt[C/A]cgctgtttccccgcgctgctgccg
- ASB in cell types
- K562 (myelogenous leukemia) HUVEC-C (HUVEC, umbilical vein endothelial cells) 22RV1 (prostate carcinoma) fetal bone marrow-derived mononuclear cells
- ASB for transcription factors
- ILF3_HUMAN TF65_HUMAN ANDR_HUMAN KMT2A_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| ILF3_HUMAN | n/a | 4.00 | 2.00 | n/a | n/a | |||
| TF65_HUMAN | 1.56 | -0.69 | 2.67 | -0.77 | Weak Concordant | |||
| ANDR_HUMAN | 2.49 | n/a | 3.00 | 2.41 | Discordant | |||
| KMT2A_HUMAN | 1.83 | -0.53 | 1.17 | 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, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, 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, Whole_Blood