rs730233 chr2:218034910 G>C
- Sequence
gctgcggagctccatggcctccct[G/C]tgccccctggtggcgagaaggaag
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) GM12878 (female B-cells) foreskin keratinocyte SK-N-SH (neuroblastoma)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN SNAI2_HUMAN IKZF1_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.70 | -0.26 | 1.44 | -1.12 | Weak Concordant | |||
| RAD21_HUMAN | 2.58 | -2.46 | 1.37 | n/a | n/a | |||
| SNAI2_HUMAN | 1.93 | -0.40 | 1.50 | n/a | No Hit | |||
| IKZF1_HUMAN | 1.83 | -2.00 | 1.33 | n/a | No Hit | |||
| ELF1_HUMAN | 1.36 | -0.84 | 1.33 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellum, Brain_Hypothalamus, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Whole_Blood