rs2105078 chr9:136727950 C>G
- Sequence
gcgccctctccaccaagggacaca[C/G]cagcggcgcctcctccgcggcccg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) MOLT-4 (Adult T acute lymphoblastic leukemia) SEM (childhood B acute lymphoblastic leukemia) WA09 (embryonic stem cells)
- ASB for transcription factors
- SPT5H_HUMAN IKZF1_HUMAN CTCF_HUMAN KMT2A_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPT5H_HUMAN | 2.68 | -2.04 | 1.00 | n/a | n/a | |||
| IKZF1_HUMAN | 3.43 | -3.22 | 1.00 | n/a | n/a | |||
| CTCF_HUMAN | 1.23 | 0.10 | 1.41 | 0.25 | Weak Discordant | |||
| KMT2A_HUMAN | 1.35 | -0.37 | 1.00 | -0.80 | Weak Concordant | |||
| CXXC1_HUMAN | 2.53 | -2.20 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cortex, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Lung, Muscle_Skeletal, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood