rs2030013 chr1:110338810 G>C
- Sequence
ctctcgcgacatctaagtgacgtc[G/C]cacagcaagcacgtgttctagtct
- ASB in cell types
- HEK293 (embryonic kidney) GM12878 (female B-cells) H1 (embryonic stem cells) HepG2 (hepatoblastoma)
- ASB for transcription factors
- CREB1_HUMAN FOXK2_HUMAN CTCF_HUMAN ATF1_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 | |
|---|---|---|---|---|---|---|---|---|
| CREB1_HUMAN | 1.72 | -0.25 | 1.44 | 0.08 | Weak Discordant | |||
| FOXK2_HUMAN | 0.40 | 2.86 | 1.33 | n/a | n/a | |||
| CTCF_HUMAN | 0.85 | 0.61 | 1.31 | n/a | No Hit | |||
| ATF1_HUMAN | 1.27 | -1.07 | 1.33 | -1.15 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cortex, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Nerve_Tibial, Ovary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood