rs4801717 chr19:56368594 T>G
- Sequence
tgagtttggaggtggcgggtgcct[T/G]acaagaatgctcgcgtgatcagtg
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney)
- ASB for transcription factors
- NRF1_HUMAN LMBL2_HUMAN EGR1_HUMAN RING2_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| NRF1_HUMAN | 2.06 | n/a | 2.00 | n/a | No Hit | |||
| LMBL2_HUMAN | 3.58 | n/a | 2.00 | n/a | n/a | |||
| EGR1_HUMAN | 3.22 | -3.12 | 2.00 | n/a | No Hit | |||
| RING2_HUMAN | 2.46 | n/a | 2.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP infant head circumference, ldl cholesterol, ldl cholesterol change with statins, tardive dyskinesia, total cholesterol
GTEx eQTL Adipose_Subcutaneous, Brain_Amygdala, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Esophagus_Gastroesophageal_Junction, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Nerve_Tibial, Pituitary, Testis, Thyroid