rs1472554 chr1:15788838 C>G
- Sequence
agtcactggcttcatcttgtgaac[C/G]ctgaaattctctagccgtcactcc
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) coronary artery smooth muscle HEK293T (embryonic kidney)
- ASB for transcription factors
- PKNX1_HUMAN MITF_HUMAN JUN_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| PKNX1_HUMAN | -1.56 | 1.24 | 1.78 | n/a | No Hit | |||
| MITF_HUMAN | n/a | 1.54 | 1.00 | n/a | No Hit | |||
| JUN_HUMAN | -0.03 | 1.14 | 1.83 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GRASP chronic kidney disease, college completion, parkinsons disease, serum creatinine estimated glomerular filtration rate (egfr), tardive dyskinesia
GTEx eQTL Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Spleen, Testis, Thyroid