rs2336384 chr1:11986006 G>T
- Sequence
gaaaacatctctcatagctgtggc[G/T]tcatgctgaggaggaatgtagaaa
- ASB in cell types
- macrophages form periferal blood MDM(monocyte derived macrophages) MV-4-11 (Childhood acute monocytic leukemia) SEM (childhood B acute lymphoblastic leukemia)
- ASB for transcription factors
- SPI1_HUMAN RUNX2_HUMAN CEBPA_HUMAN CDK9_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | 2.39 | 0.54 | 1.81 | n/a | No Hit | |||
| RUNX2_HUMAN | -4.69 | 3.30 | 1.33 | 2.41 | Concordant | |||
| CEBPA_HUMAN | 1.67 | -0.54 | 1.21 | n/a | No Hit | |||
| CDK9_HUMAN | 2.16 | -0.34 | 1.00 | n/a | n/a | |||
| CDK8_HUMAN | 1.04 | -0.43 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP adiponectin levels, aortic valve calcium, major depressive disorder, mean erythrocyte volume, microalbuminuria, platelet count (plt), rheumatoid arthritis
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Whole_Blood