rs12541188 chr8:123486663 A>G
- Sequence
gggcagctaaattctatttgttta[A/G]taaaagtagatgttttgaatgact
- ASB in cell types
- K562 (myelogenous leukemia) A549 (lung carcinoma) hepatocytes HEK293 (embryonic kidney)
- ASB for transcription factors
- RAD21_HUMAN SMC3_HUMAN ATF2_HUMAN FOXA1_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| RAD21_HUMAN | 1.19 | -0.26 | 1.65 | n/a | n/a | |||
| SMC3_HUMAN | 1.30 | -0.30 | 1.93 | n/a | n/a | |||
| ATF2_HUMAN | 0.28 | 1.33 | 1.44 | n/a | No Hit | |||
| FOXA1_HUMAN | -1.36 | 1.14 | 1.73 | 0.80 | Weak Concordant | |||
| ATF3_HUMAN | -1.39 | 1.85 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, homa-b, tetrology of fallot, triglycerides
GTEx eQTL Adrenal_Gland, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid