rs3768324 chr1:39026790 C>T
- Sequence
tcccccaaacatagccagcacttc[C/T]ggctgtaactccgggctgttgccc
- ASB in cell types
- JB6 (Human anaplastic large cell lymphoma) MCF7 (Invasive ductal breast carcinoma) MOLT-4 (Adult T acute lymphoblastic leukemia) HEK293 (embryonic kidney)
- ASB for transcription factors
- CEBPB_HUMAN ELF1_HUMAN ERG_HUMAN SPT5H_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| CEBPB_HUMAN | 2.45 | -0.31 | 1.33 | n/a | No Hit | |||
| ELF1_HUMAN | 3.15 | n/a | 2.00 | -7.54 | Concordant | |||
| ERG_HUMAN | 3.14 | -4.61 | 1.33 | -6.31 | Concordant | |||
| SPT5H_HUMAN | 2.26 | -0.12 | 1.12 | n/a | n/a | |||
| CEBPA_HUMAN | 2.81 | -4.81 | 1.50 | 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_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, 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, Kidney_Cortex, 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