rs3809646 chr16:89720447 C>T
- Sequence
aaatgcacgaacgcacggacctgc[C/T]cgtcactcggattttggaaggtgg
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) HepG2 (hepatoblastoma) SEM (childhood B acute lymphoblastic leukemia)
- ASB for transcription factors
- ZBT17_HUMAN KMT2A_HUMAN HDAC2_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| ZBT17_HUMAN | -2.59 | 2.40 | 1.33 | n/a | No Hit | |||
| KMT2A_HUMAN | n/a | 1.61 | 1.00 | n/a | n/a | |||
| HDAC2_HUMAN | n/a | 1.92 | 2.25 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, bipolar disorder, diastolic blood pressure (dbp), serum creatinine, systolic blood pressure (sbp), triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, 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, Lung, 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, Whole_Blood