rs227950 chr7:23570821 A>G
- Sequence
ccagttatgctgtgactctcttcc[A/G]gcctcctagatacccagcccagat
- ASB in cell types
- K562 (myelogenous leukemia) HepG2 (hepatoblastoma) GM12878 (female B-cells) SK-N-SH (neuroblastoma)
- ASB for transcription factors
- ELF1_HUMAN E4F1_HUMAN ETV5_HUMAN ELF4_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 | |
|---|---|---|---|---|---|---|---|---|
| ELF1_HUMAN | n/a | 3.10 | 1.67 | 4.58 | Concordant | |||
| E4F1_HUMAN | n/a | 2.90 | 2.00 | n/a | n/a | |||
| ETV5_HUMAN | -2.11 | 2.10 | 1.50 | -0.14 | Weak Discordant | |||
| ELF4_HUMAN | -1.99 | 2.22 | 2.00 | n/a | n/a | |||
| HDAC1_HUMAN | -1.06 | 1.37 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Hippocampus, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid