rs696247 chr1:235504861 T>C
- Sequence
tgtgtgaaatcacgcagagctcct[T/C]tgttccgcgtgctctcttgctcga
- ASB in cell types
- glioblastoma cells A549 (lung carcinoma) foreskin keratinocyte HeLa S3 (cervical adenocarcinoma)
- ASB for transcription factors
- GCR_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 | |
|---|---|---|---|---|---|---|---|---|
| GCR_HUMAN | 0.73 | 0.93 | 1.00 | 0.64 | Weak Concordant |
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Motif analysis
Genetic associations
GRASP arthritis including non-rheumatoid, height, hypertension (early onset hypertension), ldl cholesterol change with statins, maternal transmission distortion, parkinsons disease, total cholesterol change with statins, transmission distortion, years of education
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Cortex, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood