rs465223 chr6:33391939 G>C
- Sequence
gagtcccaggatccccggcaccca[G/C]ttctcttccactgcattcccccgg
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) GM12878 (female B-cells)
- ASB for transcription factors
- LMBL2_HUMAN HDAC1_HUMAN EGR1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| LMBL2_HUMAN | 2.56 | n/a | 3.00 | n/a | n/a | |||
| HDAC1_HUMAN | 2.13 | n/a | 2.88 | n/a | n/a | |||
| EGR1_HUMAN | 2.58 | n/a | 3.00 | 3.39 | Discordant |
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Motif analysis
Genetic associations
GRASP college completion, homa-b, ldl cholesterol, rheumatoid arthritis, suicide attempts in bipolar disorder (substance free), total cholesterol, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood