rs117214 chr21:29348513 C>T
- Sequence
gttccccaaagatgccccagtgtt[C/T]tgtaactcacaactcgtgatccta
- ASB in cell types
- EOL-1 (Acute myeloid leukemia) MOLM-13(acute monocytic leukemia(AML), Homo sapiens) macrophages form periferal blood foreskin keratinocyte
- ASB for transcription factors
- SPI1_HUMAN CEBPA_HUMAN SMRC1_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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | 0.14 | 1.87 | 1.55 | n/a | No Hit | |||
| CEBPA_HUMAN | -4.26 | 2.96 | 1.33 | 2.37 | Concordant | |||
| SMRC1_HUMAN | -1.95 | 2.33 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP hdl cholesterol, height, homa-b, lp-pla2 activity, pancreatic cancer, systolic blood pressure (sbp), type 2 diabetes, combined control dataset, gender differentiated
GTEx eQTL Adipose_Subcutaneous, Artery_Tibial, Cells_Cultured_fibroblasts, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Thyroid, Whole_Blood