rs680721 chr1:182615071 A>G
- Sequence
gctcgccgccccgggctctgtggc[A/G]ccatcagcagcttgcgcaggacac
- ASB in cell types
- GM02255 (Lymphoblastoid Cell Lines) GM02610 (Lymphoblastoid Cell Lines) GM12890 (Lymphoblastoid Cell Lines) neural cell
- ASB for transcription factors
- CTCF_HUMAN TF65_HUMAN ESR1_HUMAN INT11_HUMAN
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-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | n/a | 3.71 | 1.40 | 2.60 | Concordant | |||
| TF65_HUMAN | 2.00 | 0.34 | 2.50 | n/a | No Hit | |||
| ESR1_HUMAN | 3.52 | n/a | 3.00 | n/a | No Hit | |||
| INT11_HUMAN | -0.68 | 1.23 | 2.00 | n/a | n/a | |||
| MYB_HUMAN | 0.07 | 1.42 | 1.83 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Artery_Aorta, Artery_Coronary, Artery_Tibial, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Heart_Atrial_Appendage, Muscle_Skeletal, Nerve_Tibial, Testis