rs12652692 chr5:78483915 A>G
- Sequence
tacttcctctttttgtgtgctttt[A/G]tctgtgtcctgtgtaccttagtaa
- ASB in cell types
- CD34+ hematopoietic stem cells-derived proerythroblasts GM19239 (male B-cells lymphoblastoid cell line) GM12892 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- GATA1_HUMAN MTG8_HUMAN RBBP5_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 | |
|---|---|---|---|---|---|---|---|---|
| GATA1_HUMAN | 2.29 | -1.22 | 2.00 | -3.91 | Concordant | |||
| MTG8_HUMAN | 1.51 | -0.60 | 1.00 | n/a | n/a | |||
| RBBP5_HUMAN | 2.14 | n/a | 2.50 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Heart_Left_Ventricle, Lung, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid