rs1799257 chr19:48469282 A>C
- Sequence
tggtggcgagggcggggaggacga[A/C]agcgcccactgtggattggacagt
- ASB in cell types
- HEK293 (embryonic kidney) breast tumor CD14+ monocytes
- ASB for transcription factors
- CTCF_HUMAN ESR1_HUMAN STAT1_HUMAN ZN341_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.13 | 1.27 | 1.12 | 1.20 | Weak Concordant | |||
| ESR1_HUMAN | n/a | 3.52 | 2.00 | n/a | No Hit | |||
| STAT1_HUMAN | -5.48 | 2.26 | 2.50 | -3.12 | Discordant | |||
| ZN341_HUMAN | n/a | 2.65 | 1.33 | 1.53 | Weak Concordant |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), airflow obstruction, chronic kidney disease, hdl cholesterol, refractive error
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Putamen_basal_ganglia, Brain_Substantia_nigra, Breast_Mammary_Tissue, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Thyroid, Whole_Blood