rs16990773 chr21:33642010 C>T
- Sequence
cctcattccaaccataggcccggc[C/T]aacccctttgggttgtgcttcgcc
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) macrophages form periferal blood
- ASB for transcription factors
- RBM25_HUMAN FOXK2_HUMAN ANDR_HUMAN ESR1_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 | |
|---|---|---|---|---|---|---|---|---|
| RBM25_HUMAN | 3.00 | -0.18 | 1.50 | n/a | n/a | |||
| FOXK2_HUMAN | 3.07 | 0.56 | 1.00 | n/a | No Hit | |||
| ANDR_HUMAN | 2.20 | 0.35 | 1.64 | n/a | No Hit | |||
| ESR1_HUMAN | 2.15 | 0.08 | 2.00 | 1.67 | Weak Discordant | |||
| MAFG_HUMAN | n/a | 2.30 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, Cells_Cultured_fibroblasts, Heart_Left_Ventricle, Muscle_Skeletal