rs839753 chr1:43389907 G>C
- Sequence
gttcctgctgggtgccgaggtagc[G/C]aggtcaggggtcaagagtggaaca
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) HepG2 (hepatoblastoma) HUDEP-2 (Human Umbilical Cord Blood-Derived Erythroid Progenitor Cells-2)
- ASB for transcription factors
- SP2_HUMAN RBM25_HUMAN ZBT26_HUMAN NR2C1_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 | |
|---|---|---|---|---|---|---|---|---|
| SP2_HUMAN | 1.61 | -0.66 | 1.83 | n/a | No Hit | |||
| RBM25_HUMAN | 2.67 | -3.95 | 2.00 | n/a | n/a | |||
| ZBT26_HUMAN | 2.89 | n/a | 2.00 | n/a | No Hit | |||
| NR2C1_HUMAN | 0.54 | -0.54 | 1.00 | -2.09 | Concordant | |||
| MAZ_HUMAN | 3.13 | n/a | 2.00 | -1.27 | Weak Concordant |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, years of education
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid