rs62376388 chr5:96807725 C>T
- Sequence
gccttcctcccgcgccccgtctcc[C/T]tcctcccgtgccccgtctccctcc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) adult erythroblasts BT-549 (breast invasive ductal carcinoma) CCRF-CEM (T acute lymphoblastic leukemia)
- ASB for transcription factors
- RBBP5_HUMAN PRDM9_HUMAN KMT2A_HUMAN NFXL1_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 | |
|---|---|---|---|---|---|---|---|---|
| RBBP5_HUMAN | 2.35 | n/a | 2.50 | n/a | n/a | |||
| PRDM9_HUMAN | 3.05 | n/a | 2.00 | n/a | No Hit | |||
| KMT2A_HUMAN | 2.48 | -1.69 | 1.25 | -2.64 | Concordant | |||
| NFXL1_HUMAN | 3.33 | 1.02 | 1.50 | n/a | n/a | |||
| TRI25_HUMAN | 3.18 | -3.05 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Amygdala, 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_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, 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, Whole_Blood