rs6112030 chr20:18567337 G>A
- Sequence
tttccgggccagaggccccaaggt[G/A]catcggggcagagccggaagcgga
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) EA.hy 926 (human umbilical vein endothelial cell line)
- ASB for transcription factors
- ZN143_HUMAN FOXK2_HUMAN HIF1A_HUMAN SUZ12_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| ZN143_HUMAN | 2.70 | -5.04 | 1.50 | -1.78 | Weak Concordant | |||
| FOXK2_HUMAN | 2.42 | 0.27 | 1.17 | n/a | n/a | |||
| HIF1A_HUMAN | 1.89 | 0.01 | 1.60 | n/a | No Hit | |||
| SUZ12_HUMAN | 2.74 | n/a | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, cystatin c in serum
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood