rs1175550 chr1:3774964 A>G
- Sequence
cagttatcaggggctgcagcctag[A/G]ttgggccacaatgtcctcgtctct
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- COT1_HUMAN NR2C1_HUMAN HDAC2_HUMAN VEZF1_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| COT1_HUMAN | -2.40 | 2.40 | 1.00 | n/a | No Hit | |||
| NR2C1_HUMAN | -1.67 | 2.23 | 1.25 | n/a | No Hit | |||
| HDAC2_HUMAN | 0.11 | 1.48 | 1.17 | n/a | n/a | |||
| VEZF1_HUMAN | -2.18 | 1.24 | 1.50 | n/a | No Hit | |||
| C2D1A_HUMAN | -1.67 | 1.99 | 1.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
EMBL-EBI blood trace element (cu levels), high light scatter reticulocyte count, high light scatter reticulocyte percentage of red cells, immature fraction of reticulocytes, mean corpuscular hemoglobin concentration, red blood cell count, red cell distribution width, reticulocyte count, reticulocyte fraction of red cells
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Nucleus_accumbens_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Heart_Atrial_Appendage, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood