rs6502117 chr17:82494716 G>C
- Sequence
tgcccagtcaggaaagaaaaggga[G/C]tctatagcagaggatggtttcgat
- ASB in cell types
- LNCaP (prostate carcinoma) GM19193 (female B-cells Lymphoblastoid Cell Lines) CD34+ hematopoietic stem cells foreskin keratinocyte
- ASB for transcription factors
- TBP_HUMAN STAT1_HUMAN TIF1B_HUMAN NFXL1_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 | |
|---|---|---|---|---|---|---|---|---|
| TBP_HUMAN | -0.26 | 0.59 | 1.06 | n/a | No Hit | |||
| STAT1_HUMAN | 2.40 | -2.70 | 3.67 | n/a | No Hit | |||
| TIF1B_HUMAN | 0.20 | 3.02 | 1.33 | n/a | n/a | |||
| NFXL1_HUMAN | 2.24 | -2.06 | 1.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration, hdl cholesterol, ldl cholesterol change with statins, obesity with early age of onset (age >2), total cholesterol, total cholesterol change with statins
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood