rs1438662 chr5:109688776 G>A
- Sequence
tgtaatgtctcttcagcgccctct[G/A]ctgataaagcttcagtcccagaag
- ASB in cell types
- GM19238 (female B-cells lymphoblastoid cell lines) foreskin keratinocyte THP-1 (acute monocytic leukemia) CD14+ monocytes
- ASB for transcription factors
- STAT1_HUMAN CTCF_HUMAN RAD21_HUMAN STAG1_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| STAT1_HUMAN | 2.73 | n/a | 2.00 | n/a | No Hit | |||
| CTCF_HUMAN | 0.91 | 0.84 | 1.36 | -0.27 | Weak Concordant | |||
| RAD21_HUMAN | 0.97 | 0.66 | 1.26 | n/a | n/a | |||
| STAG1_HUMAN | 0.76 | -0.02 | 1.06 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, birth weight, childhood acute lymphoblastic leukemia
GTEx eQTL Artery_Aorta, Artery_Tibial, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Muscle_Skeletal, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood