rs5992955 chr22:18001439 G>C
- Sequence
cctcggcgccggcgtcgctgtggc[G/C]ggccagtgccgccctgttccgcag
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells) Human Umbilical Cord Blood-Derived Erythroid Progenitor Cells-2 (HUDEP-2) SEM (childhood B acute lymphoblastic leukemia)
- ASB for transcription factors
- REST_HUMAN BC11A_HUMAN FOXK2_HUMAN ZFP91_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| REST_HUMAN | -2.11 | 1.89 | 1.50 | n/a | No Hit | |||
| BC11A_HUMAN | -1.02 | 1.77 | 1.50 | n/a | No Hit | |||
| FOXK2_HUMAN | 2.03 | 0.36 | 1.33 | n/a | n/a | |||
| ZFP91_HUMAN | -1.47 | 1.70 | 1.00 | n/a | n/a | |||
| KMT2A_HUMAN | 0.94 | 0.02 | 1.10 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Cells_Cultured_fibroblasts, Lung, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood