rs746825 chr7:158818315 A>C
- Sequence
ggaagatacagagcaaatcaaggc[A/C]aggaagaggagtgccactgtaggc
- ASB in cell types
- K562 (myelogenous leukemia) macrophages form periferal blood MCF7 (Invasive ductal breast carcinoma) GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- SPI1_HUMAN ESR1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | 0.06 | 1.81 | 1.50 | -0.26 | Weak Discordant | |||
| ESR1_HUMAN | -0.21 | 1.46 | 2.29 | 3.91 | Concordant |
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Motif analysis
Genetic associations
GRASP hip bone mineral density (bmd), ldl cholesterol, spine bone mineral density (bmd), total cholesterol
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Frontal_Cortex_BA9, Brain_Hypothalamus, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood