rs4369960 chr21:45976159 G>T
- Sequence
gagacaggcccacctgggggggct[G/T]tttataagccaatacctccaggtg
- ASB in cell types
- HS-SY-2(Monophasic synovial sarcoma) WA09 (embryonic stem cells)
- ASB for transcription factors
- SMCA4_HUMAN NANOG_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SMCA4_HUMAN | 2.12 | 0.30 | 1.00 | n/a | n/a | |||
| NANOG_HUMAN | 1.67 | -0.37 | 1.33 | 2.98 | Discordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid