rs9435780 chr1:16905192 C>T
- Sequence
tggagctgtggcggggcggaagtt[C/T]acatgtgtggtatgtagagcacat
- ASB in cell types
- HepG2 (hepatoblastoma) GM12878 (female B-cells) HT29 (colon adenocarcinoma) MDA-MB-453 (breast adenocarcinoma)
- ASB for transcription factors
- FOXA1_HUMAN CTCF_HUMAN MAF_HUMAN NR2C1_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| FOXA1_HUMAN | -0.50 | 2.09 | 2.00 | n/a | No Hit | |||
| CTCF_HUMAN | 0.59 | 1.64 | 1.24 | n/a | No Hit | |||
| MAF_HUMAN | n/a | 2.75 | 2.50 | n/a | No Hit | |||
| NR2C1_HUMAN | 2.22 | -2.54 | 2.17 | -4.78 | Concordant | |||
| SPI1_HUMAN | 0.70 | 1.71 | 1.77 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (geographic atrophy), cystatin c in serum, height, total cholesterol, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood