rs974357 chr6:32972117 G>T
- Sequence
cgcgcgcggagggggtggggaaaa[G/T]ctcaagcagggtggcgcgcatgag
- ASB in cell types
- fetal bone marrow-derived mononuclear cells breast tumor adult erythroblasts primary B-CLL cells
- ASB for transcription factors
- KMT2A_HUMAN ESR1_HUMAN TF65_HUMAN HCFC1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| KMT2A_HUMAN | n/a | 3.18 | 1.50 | -1.88 | Weak Discordant | |||
| ESR1_HUMAN | 0.63 | 2.59 | 1.36 | n/a | No Hit | |||
| TF65_HUMAN | -4.26 | 2.60 | 3.25 | 1.61 | Weak Concordant | |||
| HCFC1_HUMAN | n/a | 2.77 | 3.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP body mass index (bmi), infant head circumference, ldl cholesterol, microalbuminuria, rheumatoid arthritis, total cholesterol, urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Breast_Mammary_Tissue, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Kidney_Cortex, Lung, Muscle_Skeletal, Nerve_Tibial, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Testis, Thyroid, Whole_Blood