rs1860430 chr12:3097655 A>G
- Sequence
aagtacagtgctggcccagggcca[A/G]tctgataaggtagcaggacttaga
- ASB in cell types
- HEK293 (embryonic kidney) CD34+ hematopoietic stem cells-derived proerythroblasts CD34+ bone marrow cell-derived erythroid progenitors CTV-1 (Adult T acute lymphoblastic leukemia)
- ASB for transcription factors
- GATA1_HUMAN NFIA_HUMAN ZBT17_HUMAN ZFHX2_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 | 2.88 | n/a | 1.83 | 0.58 | Weak Discordant | |||
| NFIA_HUMAN | 2.02 | -1.46 | 1.25 | -0.26 | Weak Concordant | |||
| ZBT17_HUMAN | 2.23 | n/a | 2.00 | n/a | No Hit | |||
| ZFHX2_HUMAN | 2.82 | -5.34 | 2.00 | n/a | n/a | |||
| MYCN_HUMAN | 2.56 | -0.39 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Lung, Nerve_Tibial, Pituitary, Spleen, Testis, Thyroid