rs730233 chr2:218034910 G>C
- Sequence
gctgcggagctccatggcctccct[G/C]tgccccctggtggcgagaaggaag
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) MCF7 (Invasive ductal breast carcinoma) SK-N-SH (neuroblastoma) MCF7L-P(immortalized breast epithelial cell line)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN STAG1_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 | 2.13 | -0.14 | 1.44 | -2.17 | Concordant | |||
| RAD21_HUMAN | 3.01 | 0.55 | 1.42 | n/a | n/a | |||
| STAG1_HUMAN | 1.35 | -0.55 | 1.22 | n/a | n/a | |||
| IKZF1_HUMAN | 2.74 | -2.92 | 1.25 | n/a | n/a | |||
| ELF1_HUMAN | 1.98 | -1.51 | 1.00 | 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