rs4803201 chr19:39110552 C>T
- Sequence
gggcacaaccgtcatgacactact[C/T]accagcaggtggcgtcaggggctt
- ASB in cell types
- neural cell GM12878 (female B-cells lymphoblastoid cell line) K562 (myelogenous leukemia) Kelly (neuroblastoma)
- ASB for transcription factors
- CTCF_HUMAN SMC3_HUMAN RAD21_HUMAN ELF1_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.00 | 0.49 | 1.44 | -0.13 | Weak Concordant | |||
| SMC3_HUMAN | 1.33 | 0.21 | 1.69 | n/a | n/a | |||
| RAD21_HUMAN | 0.86 | 0.31 | 1.33 | n/a | n/a | |||
| ELF1_HUMAN | 2.33 | -2.17 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg