rs1870086 chr19:40750614 T>G
- Sequence
taagaggcgggactccaaaaagga[T/G]tgcctccggaagacaccgcagcgc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) K562 (myelogenous leukemia) HEK293 (embryonic kidney) breast tumor
- ASB for transcription factors
- RBM25_HUMAN USF1_HUMAN CTCF_HUMAN CREM_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| RBM25_HUMAN | 1.10 | 2.02 | 5.00 | n/a | n/a | |||
| USF1_HUMAN | 1.41 | 0.45 | 1.17 | n/a | No Hit | |||
| CTCF_HUMAN | 0.93 | 0.22 | 1.25 | -1.24 | Weak Concordant | |||
| CREM_HUMAN | 2.74 | -0.10 | 1.67 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellum, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Stomach, Thyroid, Whole_Blood