rs1343778 chr1:89693033 C>A
- Sequence
agccccctggaagccctaggggac[C/A]tgccttgtgattgtgacatagaaa
- ASB in cell types
- HUVEC-C (HUVEC, umbilical vein endothelial cells) MDM(monocyte derived macrophages) CD14+ monocytes GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- SPI1_HUMAN TF65_HUMAN STAT1_HUMAN FOXK2_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | 1.68 | 0.49 | 1.54 | n/a | No Hit | |||
| TF65_HUMAN | 2.99 | 0.47 | 2.33 | n/a | No Hit | |||
| STAT1_HUMAN | 2.34 | -1.58 | 2.00 | n/a | No Hit | |||
| FOXK2_HUMAN | 2.81 | n/a | 1.50 | n/a | n/a | |||
| HAND2_HUMAN | -3.36 | 1.97 | 1.50 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), aortic valve calcium, bipolar disorder, rheumatoid arthritis, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Thyroid, Whole_Blood