rs5412 chr17:7280727 G>A
- Sequence
ctgcggctcctcgctcgccctcca[G/A]gtggcagcacaaccctgcgcttcc
- ASB in cell types
- WA09 (embryonic stem cells) transverse colon GBM39 (Human brain tumor) Peyer's patch
- ASB for transcription factors
- CTCF_HUMAN SMC3_HUMAN ESR1_HUMAN EZH2_HUMAN
View in PheLiGe Color scale
-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 | 1.71 | 0.04 | 1.44 | -6.55 | Concordant | |||
| SMC3_HUMAN | 1.33 | -0.37 | 2.00 | n/a | n/a | |||
| ESR1_HUMAN | 2.54 | n/a | 2.00 | n/a | No Hit | |||
| EZH2_HUMAN | 0.72 | 2.40 | 1.00 | n/a | n/a | |||
| ANDR_HUMAN | 2.54 | n/a | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP adiponectin levels, resistance to kuru in aged women despite likely exposure, triglycerides change with statins, waist hip ratio
GTEx eQTL Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Transverse, Esophagus_Mucosa, Heart_Left_Ventricle, Liver, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood