rs2601007 chr12:69585335 G>C
- Sequence
ggagcggcggccacgccccctcca[G/C]tgtgaaaggctgcgtttccggccc
- ASB in cell types
- K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) Th1-cells
- ASB for transcription factors
- NELFE_HUMAN SRF_HUMAN TBX21_HUMAN ZBT40_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 | |
|---|---|---|---|---|---|---|---|---|
| NELFE_HUMAN | 1.39 | 0.43 | 1.14 | n/a | n/a | |||
| SRF_HUMAN | -0.78 | 2.31 | 2.20 | n/a | No Hit | |||
| TBX21_HUMAN | 2.04 | 0.10 | 1.00 | n/a | No Hit | |||
| ZBT40_HUMAN | 0.87 | 0.56 | 1.33 | n/a | n/a | |||
| CTCF_HUMAN | 0.98 | 0.73 | 1.29 | -3.75 | Concordant |
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Motif analysis
Genetic associations
GRASP 2 hour glucose, advanced age-related macular degeneration, diastolic blood pressure (dbp), hdl cholesterol, triglycerides
GTEx eQTL Cells_Cultured_fibroblasts, Esophagus_Mucosa, Heart_Atrial_Appendage, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood