rs1991401 chr17:64506317 A>G
- Sequence
ggccgctttccggcagccgctttt[A/G]tagtctggaccgcctcctacgccg
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells) CD14+ monocytes
- ASB for transcription factors
- MTA3_HUMAN TF65_HUMAN EGR1_HUMAN MNT_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 | |
|---|---|---|---|---|---|---|---|---|
| MTA3_HUMAN | 0.89 | n/a | 2.00 | n/a | n/a | |||
| TF65_HUMAN | 1.04 | -0.18 | 2.10 | n/a | No Hit | |||
| EGR1_HUMAN | 0.81 | 0.80 | 1.80 | n/a | No Hit | |||
| MNT_HUMAN | 1.66 | -1.47 | 2.00 | n/a | n/a | |||
| KDM1A_HUMAN | 1.76 | -0.90 | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, parkinsons disease, partial epilepsy, sporadic creutzfeldt-jakob disease
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Brain_Hippocampus, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood