rs4648401 chr1:3621294 A>G
- Sequence
ctagaccacggtccgcttggtaac[A/G]ggcgtcttcccagacgctggtgtt
- ASB in cell types
- HeLa (cervical adenocarcinoma) K562 (myelogenous leukemia) GM02630 (Fanconi anemi) GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN SMCA5_HUMAN SMC3_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.49 | 0.08 | 1.25 | n/a | No Hit | |||
| STAG1_HUMAN | 0.85 | -0.15 | 1.09 | n/a | n/a | |||
| SMCA5_HUMAN | 2.37 | -1.66 | 1.00 | n/a | n/a | |||
| SMC3_HUMAN | 1.35 | -3.54 | 2.00 | n/a | n/a | |||
| ZN143_HUMAN | 2.30 | -1.98 | 1.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid, Whole_Blood