rs897804 chr19:12766150 G>C
- Sequence
gcgcgcgcggttggcatcctccag[G/C]tggcgctgcagctcctcctgccgc
- ASB in cell types
- HEK293 (embryonic kidney) WA09 (embryonic stem cells) K562 (myelogenous leukemia) IMR-5 (Neuroblastoma)
- ASB for transcription factors
- RAD21_HUMAN ZIC2_HUMAN CTCF_HUMAN RING2_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 | |
|---|---|---|---|---|---|---|---|---|
| RAD21_HUMAN | 1.99 | -1.85 | 2.00 | n/a | n/a | |||
| ZIC2_HUMAN | 3.30 | n/a | 2.00 | n/a | No Hit | |||
| CTCF_HUMAN | 2.19 | n/a | 3.00 | -4.85 | Concordant | |||
| RING2_HUMAN | 2.84 | n/a | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, ldl cholesterol, mitral annular calcium, prop taste detection threshold
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood