rs180817 chr22:23315820 G>A
- Sequence
ctgggagacagggtgaagggagtg[G/A]tttttatgaacttaacttagagtc
- ASB in cell types
- GM18486 (Lymphoblastoid Cell Lines) neural cell GM12878 (female B-cells lymphoblastoid cell line) transverse colon
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN RAD21_HUMAN SMC3_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.52 | 0.34 | 1.92 | n/a | No Hit | |||
| STAG1_HUMAN | 3.18 | 1.09 | 3.58 | n/a | n/a | |||
| RAD21_HUMAN | 2.34 | -0.17 | 1.93 | n/a | n/a | |||
| SMC3_HUMAN | 1.72 | -0.22 | 2.14 | 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, ldl cholesterol, systolic blood pressure (sbp)
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_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Substantia_nigra, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, 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, Whole_Blood