rs2116899 chr19:11131104 G>A
- Sequence
gactttggcttttgccctgagagc[G/A]gtgggaagtgactgaatccggtac
- ASB in cell types
- neutrophils from periferal blood HEK293 (embryonic kidney) K562 (myelogenous leukemia) OCI-LY7 (diffuse large B-cell lymphoma)
- ASB for transcription factors
- GLIS1_HUMAN ELF1_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 | |
|---|---|---|---|---|---|---|---|---|
| GLIS1_HUMAN | 2.33 | n/a | 2.00 | -1.29 | Weak Concordant | |||
| ELF1_HUMAN | -1.01 | 2.74 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
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