rs309137 chr2:136008381 T>C
- Sequence
acttctgctgttgccaccaaccct[T/C]gcgtttccctttgtcacttccccc
- ASB in cell types
- CD14+ monocytes macrophages SKH1 (chronic myelogenous leukemia, BCR-ABL1 positive)
- ASB for transcription factors
- STAT1_HUMAN EP300_HUMAN CTCF_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| STAT1_HUMAN | n/a | 4.12 | 2.00 | -1.52 | Weak Discordant | |||
| EP300_HUMAN | -1.98 | 2.33 | 1.50 | n/a | n/a | |||
| CTCF_HUMAN | 1.15 | 0.32 | 1.27 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, arthritis including non-rheumatoid, body mass index (bmi), celiac disease, cystatin c in serum, hdl cholesterol, late onset alzheimers disease, ldl cholesterol, longstanding arthritis, obesity with early age of onset (age >2), pagets disease of bone, panic disorder, parkinsons disease, partial epilepsy, premature ovarian failure, rheumatoid arthritis, serum creatinine, sporadic creutzfeldt-jakob disease, total cholesterol, waist circumference
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood