rs7146933 chr14:106537731 G>C
- Sequence
tggagacagccccgtgctcagtgt[G/C]ctgtcgccccctggtggtcccaag
- ASB in cell types
- GM02630 (Fanconi anemi) H929 (plasma cell myeloma) GM10847 (female B-cells Lymphoblastoid Cell Lines)
- ASB for transcription factors
- CTCF_HUMAN STAG1_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 | 3.72 | -0.12 | 1.58 | -1.05 | Weak Concordant | |||
| STAG1_HUMAN | 1.79 | -0.27 | 1.54 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), body mass index (bmi), chronic kidney disease, hdl cholesterol change with statins, mitral annular calcium
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Breast_Mammary_Tissue, Colon_Transverse, Esophagus_Mucosa, Heart_Atrial_Appendage, Liver, Lung, Minor_Salivary_Gland, Prostate, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood