rs806528 chr19:1490421 A>C
- Sequence
ccgccgagtgggcccaggcgtccg[A/C]cccgcccccggcgccatagcaacg
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) tibial nerve
- ASB for transcription factors
- NRF1_HUMAN EP300_HUMAN VEZF1_HUMAN CTCF_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| NRF1_HUMAN | 0.18 | 0.60 | 1.89 | 4.23 | Concordant | |||
| EP300_HUMAN | -0.80 | 1.46 | 1.61 | n/a | n/a | |||
| VEZF1_HUMAN | n/a | 2.59 | 2.00 | 1.92 | Weak Concordant | |||
| CTCF_HUMAN | 0.36 | 0.57 | 1.18 | n/a | No Hit | |||
| MNT_HUMAN | -0.03 | 1.36 | 1.73 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Ovary, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood