rs915803 chr21:46228958 A>G
- Sequence
gcgagcgtgaccccggggtgtgcc[A/G]ggcgaccacagtggtggagcgctt
- ASB in cell types
- K562 (myelogenous leukemia) BJ1-hTERT (Human fibroblast telomerase immortalized cell line) GM19238 (female B-cells lymphoblastoid cell lines) T47D (invasive ductal carcinoma)
- ASB for transcription factors
- KDM1A_HUMAN MNT_HUMAN RBM25_HUMAN COT1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| KDM1A_HUMAN | 0.31 | 2.11 | 1.12 | n/a | n/a | |||
| MNT_HUMAN | -1.47 | 1.81 | 2.00 | n/a | No Hit | |||
| RBM25_HUMAN | -2.56 | 2.48 | 1.00 | n/a | n/a | |||
| COT1_HUMAN | -0.89 | 1.24 | 1.25 | n/a | No Hit | |||
| MGAP_HUMAN | -2.03 | 2.42 | 1.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, 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, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Vagina, Whole_Blood