rs2116897 chr19:11131201 G>A
- Sequence
gctgggggaggctgccaggcccag[G/A]aggtgagaagtaggtggcctccag
- ASB in cell types
- neutrophils from periferal blood PC9 (lung adenocarcinoma) HEK293 (embryonic kidney) HUVEC-C (HUVEC, umbilical vein endothelial cells)
- ASB for transcription factors
- GLIS1_HUMAN TF65_HUMAN SMCA5_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| GLIS1_HUMAN | 2.35 | n/a | 2.00 | -5.04 | Concordant | |||
| TF65_HUMAN | 2.51 | -4.74 | 2.00 | n/a | No Hit | |||
| SMCA5_HUMAN | 2.35 | -2.25 | 1.50 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP abnormal involuntary movement scale, advanced age-related macular degeneration, barnes akathisia rating scale, ldl cholesterol, simpson-angus scale, total cholesterol
GTEx eQTL Adipose_Subcutaneous, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Spleen, Stomach, Testis, Thyroid, Whole_Blood