rs397706 chr19:43983933 A>G
- Sequence
gccaaaattctcacgcctccacag[A/G]gcaaatggactccatttcccaaga
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) cranial neural crest cells CUTLL1 (T-cell lymphoblastic lymphoma 1)
- ASB for transcription factors
- NRF1_HUMAN AP2A_HUMAN IKZF1_HUMAN GLIS1_HUMAN
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-log10 FDR of Ref (A) 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 | 2.20 | n/a | 2.00 | -0.78 | Weak Concordant | |||
| AP2A_HUMAN | 2.35 | -3.49 | 2.00 | n/a | No Hit | |||
| IKZF1_HUMAN | 1.70 | -0.83 | 1.67 | n/a | No Hit | |||
| GLIS1_HUMAN | n/a | 1.47 | 4.00 | n/a | n/a | |||
| ZIC2_HUMAN | n/a | 2.77 | 4.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP acute lung injury following major trauma, homa-b, ldl cholesterol change with statins, microalbuminuria, total cholesterol change with statins, waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cortex, Breast_Mammary_Tissue, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood