rs1966961 chr19:38769830 A>C
- Sequence
cgcggcgaacctggcgtccccacc[A/C]gacaccagaatcagattcaggcca
- ASB in cell types
- SEM (childhood B acute lymphoblastic leukemia) transverse colon K562 (myelogenous leukemia) adrenal gland
- ASB for transcription factors
- CTCF_HUMAN ERG_HUMAN RAD21_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.22 | 0.71 | 1.40 | 1.15 | Weak Discordant | |||
| ERG_HUMAN | n/a | 3.78 | 1.33 | n/a | No Hit | |||
| RAD21_HUMAN | 1.86 | -0.15 | 1.38 | n/a | n/a |
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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), birth weight, chronic kidney disease, homa-b, ldl cholesterol, serum creatinine, spine bone mineral density (bmd), type 2 diabetes
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Brain_Hypothalamus, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Esophagus_Mucosa, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Vagina, Whole_Blood