rs76733513 chr1:39816962 G>C
- Sequence
ttggttcccaccgtcatctccccc[G/C]agatgctaggctgtttgtgtccac
- ASB in cell types
- K562 (myelogenous leukemia) erythroid cells SUM159PT (pleiomorphic breast carcinoma) lymphoblastoid cells
- ASB for transcription factors
- CTCF_HUMAN SP1_HUMAN GCR_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.80 | 0.53 | 1.39 | n/a | No Hit | |||
| SP1_HUMAN | 1.59 | -1.32 | 1.00 | 3.29 | Discordant | |||
| GCR_HUMAN | 1.61 | -1.49 | 1.33 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Breast_Mammary_Tissue, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Nerve_Tibial, Pituitary, Skin_Sun_Exposed_Lower_leg, Spleen, Whole_Blood