rs3822960 chr6:73521136 C>T
- Sequence
ctttcccagtttaccccgcgccac[C/T]ttctctaggcaccggttcaattgc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) MV-4-11 (Childhood acute monocytic leukemia) breast tumor MEL1 (Mucosal melanoma)
- ASB for transcription factors
- ELF1_HUMAN CDK9_HUMAN AP2C_HUMAN AHR_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| ELF1_HUMAN | n/a | 2.93 | 2.00 | n/a | No Hit | |||
| CDK9_HUMAN | -1.78 | 2.62 | 1.00 | n/a | n/a | |||
| AP2C_HUMAN | 3.02 | -3.01 | 1.00 | n/a | No Hit | |||
| AHR_HUMAN | 2.81 | 0.14 | 1.33 | n/a | No Hit | |||
| TET2_HUMAN | 3.13 | -5.13 | 1.50 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP 2 hour glucose, advanced age-related macular degeneration (geographic atrophy), chronic kidney disease
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood