rs13250995 chr8:23472472 G>A
- Sequence
ttcgcgaatcatgaacgcatgttg[G/A]caccagatcctctttgagccctcc
- ASB in cell types
- K562 (myelogenous leukemia) A549 (lung carcinoma) adult erythroblasts epidermal keratinocytes
- ASB for transcription factors
- FOXK2_HUMAN FOXA1_HUMAN KDM6A_HUMAN ANDR_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| FOXK2_HUMAN | 0.24 | 3.22 | 1.33 | 2.52 | Concordant | |||
| FOXA1_HUMAN | n/a | 2.83 | 1.50 | 1.61 | Weak Concordant | |||
| KDM6A_HUMAN | 1.82 | n/a | 2.50 | n/a | n/a | |||
| ANDR_HUMAN | 1.91 | -1.13 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP 2 hour glucose, advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, body mass index (bmi), diastolic blood pressure (dbp), height, ldl cholesterol, systolic blood pressure (sbp), total cholesterol
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Cells_Cultured_fibroblasts, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Spleen, Testis, Thyroid, Whole_Blood