rs5995820 chr22:22322237 G>C
- Sequence
gggtgtgatgagagcaggaccagc[G/C]ccacctgtcctgcttggtgcccta
- ASB in cell types
- neural progenitors GM12892 (female B-cells lymphoblastoid cell line) GM12878 (female B-cells lymphoblastoid cell line) glioblastoma cells
- ASB for transcription factors
- CTCF_HUMAN ZN143_HUMAN STAG1_HUMAN KDM6A_HUMAN
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-log10 FDR of Ref (G) 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 | 1.41 | 0.07 | 2.72 | n/a | No Hit | |||
| ZN143_HUMAN | 3.02 | -3.16 | 1.00 | n/a | No Hit | |||
| STAG1_HUMAN | 1.52 | -1.34 | 1.00 | n/a | n/a | |||
| KDM6A_HUMAN | 1.95 | n/a | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
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_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, 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, Uterus, Whole_Blood