rs3812474 chr8:124450857 A>T
- Sequence
gcatggccgggtgagctgcaggct[A/T]ccttatttaagaccgggaatttag
- ASB in cell types
- CTV-1 (Adult T acute lymphoblastic leukemia) MCF7 (Invasive ductal breast carcinoma) GM12878 (female B-cells lymphoblastoid cell line) A549 (lung carcinoma)
- ASB for transcription factors
- SPI1_HUMAN ELF1_HUMAN TBP_HUMAN SMAD2_HUMAN
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-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | -0.14 | 3.71 | 1.86 | 4.02 | Concordant | |||
| ELF1_HUMAN | -0.75 | 1.74 | 1.50 | 4.02 | Concordant | |||
| TBP_HUMAN | 1.51 | -0.18 | 1.00 | n/a | No Hit | |||
| SMAD2_HUMAN | 2.67 | n/a | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cortex, Brain_Frontal_Cortex_BA9, 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, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood