rs182366 chr1:235504679 G>C
- Sequence
cactcggcggccgcgggggcgaag[G/C]gcgaggccccacacagagcatgcg
- ASB in cell types
- foreskin keratinocyte HepG2 (hepatoblastoma) HeLa S3 (cervical adenocarcinoma) A549 (lung carcinoma)
- ASB for transcription factors
- CREB1_HUMAN KDM6A_HUMAN RBBP5_HUMAN CTCF_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| CREB1_HUMAN | 1.75 | 0.07 | 1.45 | n/a | No Hit | |||
| KDM6A_HUMAN | 2.00 | -0.03 | 1.50 | n/a | n/a | |||
| RBBP5_HUMAN | 2.24 | n/a | 2.50 | n/a | n/a | |||
| CTCF_HUMAN | 0.90 | 0.73 | 1.34 | 1.00 | Weak Discordant | |||
| GCR_HUMAN | 0.29 | 0.96 | 1.13 | n/a | No Hit |
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Motif analysis
Genetic associations
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