rs11680096 chr2:27050703 T>C
- Sequence
cctgccctggcaggttccttcagc[T/C]ggagaaagcgggggtcatggctgg
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) keratinocytes HEK293 (embryonic kidney)
- ASB for transcription factors
- SNAI2_HUMAN ZN786_HUMAN ETS1_HUMAN CREB1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| SNAI2_HUMAN | 3.02 | n/a | 1.50 | n/a | No Hit | |||
| ZN786_HUMAN | -1.46 | 2.50 | 2.00 | n/a | n/a | |||
| ETS1_HUMAN | 0.26 | 1.86 | 1.00 | 0.65 | Weak Concordant | |||
| CREB1_HUMAN | 0.15 | 1.31 | 1.62 | n/a | No Hit | |||
| GCR_HUMAN | 0.42 | 0.98 | 1.12 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, bipolar disorder, diabetic retinopathy in type 2 diabetes mellitus, fasting blood glucose, hdl cholesterol, homa-b, ldl cholesterol
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_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood