rs2380219 chr6:95519512 T>C
- Sequence
cagtgaagttctcactctgggtcc[T/C]ggactccacaaggaactgacagtt
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- HINFP_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| HINFP_HUMAN | n/a | 3.44 | 3.00 | 2.56 | Concordant |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, advanced age-related macular degeneration (geographic atrophy), hdl cholesterol, recurrent early onset major depressive disorder, recurrent early onset major depressive disorder (males), refractive error
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Stomach, Whole_Blood