rs731835 chr19:58387069 T>C
- Sequence
agggcaactacggggtagcggaca[T/C]ccgccaggcacgcttctagggccg
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) SEM (childhood B acute lymphoblastic leukemia)
- ASB for transcription factors
- GABP1_HUMAN NR2C1_HUMAN GABPA_HUMAN ELF1_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| GABP1_HUMAN | 1.42 | n/a | 2.00 | n/a | n/a | |||
| NR2C1_HUMAN | 1.39 | -1.38 | 1.67 | n/a | No Hit | |||
| GABPA_HUMAN | 2.18 | 0.26 | 1.28 | n/a | No Hit | |||
| ELF1_HUMAN | 2.81 | -1.55 | 1.47 | n/a | No Hit | |||
| NRF1_HUMAN | 2.32 | 0.02 | 2.21 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP body mass index (bmi), resistance to kuru in aged women despite likely exposure, rheumatoid arthritis, sporadic creutzfeldt-jakob disease
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood