rs2354800 chr19:39833947 G>T
- Sequence
tggcctcgtgctaagtctcacggc[G/T]acgggagcagggcggatcccgtcc
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) primary B-CLL cells LNCaP (prostate carcinoma)
- ASB for transcription factors
- MGAP_HUMAN LMBL2_HUMAN TBP_HUMAN BRD4_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| MGAP_HUMAN | 2.50 | n/a | 2.00 | 1.70 | Weak Discordant | |||
| LMBL2_HUMAN | 2.66 | n/a | 2.00 | n/a | n/a | |||
| TBP_HUMAN | 0.14 | 1.31 | 1.00 | n/a | No Hit | |||
| BRD4_HUMAN | 0.04 | 1.90 | 1.86 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP hdl cholesterol, obesity with early age of onset (age >2), suicide attempts in bipolar disorder (females), waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood