rs117204966 chr19:49036946 T>C
- Sequence
actggccctggggactgggtgacg[T/C]cagggatgagcctcttgtgattgg
- ASB in cell types
- K562 (myelogenous leukemia) RWPE2 HeLa S3 (cervical adenocarcinoma) EOL-1 (Acute myeloid leukemia)
- ASB for transcription factors
- CTCF_HUMAN KDM1A_HUMAN CTBP1_HUMAN LEF1_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 2.26 | -0.60 | 2.08 | 2.00 | Weak Discordant | |||
| KDM1A_HUMAN | 1.73 | n/a | 3.00 | n/a | n/a | |||
| CTBP1_HUMAN | 1.83 | n/a | 2.00 | n/a | n/a | |||
| LEF1_HUMAN | 1.63 | n/a | 2.00 | n/a | No Hit | |||
| HDAC1_HUMAN | 2.33 | -3.83 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Muscle_Skeletal, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood