rs12030741 chr1:248826724 G>C
- Sequence
acctctaggtgtcgcttggtgagg[G/C]gagggcctaggcctaaggggaagg
- ASB in cell types
- K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) foreskin keratinocyte CD14+ monocytes
- ASB for transcription factors
- CTCF_HUMAN ZFX_HUMAN STAT1_HUMAN CREB1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | 0.42 | 1.04 | 1.72 | n/a | No Hit | |||
| ZFX_HUMAN | -1.88 | 2.33 | 2.00 | n/a | No Hit | |||
| STAT1_HUMAN | 2.59 | n/a | 2.50 | n/a | No Hit | |||
| CREB1_HUMAN | 0.41 | 1.07 | 1.50 | n/a | No Hit | |||
| HDAC1_HUMAN | -2.17 | 2.09 | 2.67 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Breast_Mammary_Tissue, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood