rs12541377 chr8:143940256 C>G
- Sequence
tgcccacctgcggagcccaccctg[C/G]cccaggcagacacctcacgtcgga
- ASB in cell types
- keratinocytes HUVEC-C (HUVEC, umbilical vein endothelial cells) MDA-MB-231 (breast adenocarcinoma) HAEC (human aortic endothelial cells)
- ASB for transcription factors
- SNAI2_HUMAN TF65_HUMAN ESR1_HUMAN BRD4_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SNAI2_HUMAN | n/a | 3.83 | 1.50 | n/a | No Hit | |||
| TF65_HUMAN | 2.85 | -0.12 | 2.00 | n/a | No Hit | |||
| ESR1_HUMAN | 2.17 | -0.73 | 1.67 | -1.21 | Weak Concordant | |||
| BRD4_HUMAN | 1.46 | -0.06 | 1.96 | 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_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, 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