rs269287 chr1:52703170 T>C
- Sequence
tgagggaggttccaggtggcttgc[T/C]cgggggctgcccagctcgccgtcc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) hTERT-HME1(Telomerase immortalized cell line) RH4 (alveolar rhabdomyosarcoma) UCLA1 hESCs
- ASB for transcription factors
- BRCA2_HUMAN IKZF2_HUMAN AP2C_HUMAN MYOD1_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 | |
|---|---|---|---|---|---|---|---|---|
| BRCA2_HUMAN | -1.39 | 2.11 | 1.00 | n/a | n/a | |||
| IKZF2_HUMAN | -1.46 | 1.71 | 1.00 | n/a | n/a | |||
| AP2C_HUMAN | -2.56 | 2.48 | 1.00 | 3.77 | Concordant | |||
| MYOD1_HUMAN | -0.68 | 2.57 | 1.88 | n/a | No Hit | |||
| SRBP2_HUMAN | 1.43 | -0.87 | 2.00 | 3.31 | Discordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Minor_Salivary_Gland, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood