rs791472 chr19:1490962 T>C
- Sequence
aatcccatcctctgacaccgccct[T/C]ccaatcagctacgtctcgctccgg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) breast tumor
- ASB for transcription factors
- PKNX1_HUMAN ZN143_HUMAN ESR1_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| PKNX1_HUMAN | -4.68 | 3.37 | 1.67 | -0.53 | Weak Discordant | |||
| ZN143_HUMAN | -2.17 | 2.52 | 1.00 | n/a | No Hit | |||
| ESR1_HUMAN | 1.61 | -0.53 | 2.25 | n/a | No Hit |
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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, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Ovary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Testis, Thyroid, Whole_Blood