rs269286 chr1:52703346 A>G
- Sequence
tcactccccatccccccaagatat[A/G]gaaaggccgtgacagctgccagcc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) BEAS-2B (bronchial epithelium) HKC8 (kidney proximal tubule cell line) K562 (myelogenous leukemia)
- ASB for transcription factors
- USF2_HUMAN GCR_HUMAN ATF7_HUMAN IKZF2_HUMAN
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-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| USF2_HUMAN | -0.94 | 3.36 | 1.25 | n/a | No Hit | |||
| GCR_HUMAN | -0.00 | 1.63 | 1.00 | n/a | No Hit | |||
| ATF7_HUMAN | -2.69 | 1.82 | 1.50 | n/a | n/a | |||
| IKZF2_HUMAN | -1.72 | 1.70 | 1.00 | n/a | n/a | |||
| HTF4_HUMAN | -1.18 | 2.09 | 1.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Minor_Salivary_Gland, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood