rs6065630 chr20:43590581 T>C
- Sequence
gttcctaatagtccagcacagcct[T/C]ccgcccggccccgccctcgcctgg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) BEAS-2B (bronchial epithelium) CAR-T cells SUM159PT (Triple negative breast cancer)
- ASB for transcription factors
- GCR_HUMAN CTCF_HUMAN ATF7_HUMAN IKZF1_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| GCR_HUMAN | 1.24 | 0.01 | 2.00 | n/a | No Hit | |||
| CTCF_HUMAN | 1.21 | 0.96 | 1.21 | n/a | No Hit | |||
| ATF7_HUMAN | 1.98 | -3.08 | 1.50 | n/a | No Hit | |||
| IKZF1_HUMAN | 1.24 | -0.25 | 1.40 | n/a | n/a | |||
| ELF1_HUMAN | 2.36 | -2.02 | 1.00 | -4.35 | Concordant |
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Motif analysis
Genetic associations
GRASP autism, height, microalbuminuria, obesity with early age of onset (age >2), urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, Artery_Tibial, Brain_Cerebellum, Cells_EBV-transformed_lymphocytes, Esophagus_Muscularis, Nerve_Tibial, Pituitary, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Whole_Blood