rs10127448 chr1:44721839 T>C
- Sequence
ttaaccataaactcatagttgttt[T/C]tctccacggaaatctttagtaaaa
- ASB in cell types
- HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) HEK293T (embryonic kidney) Aska-SS (Biphasic synovial sarcoma)
- ASB for transcription factors
- ARID2_HUMAN ATF2_HUMAN NFAC2_HUMAN STAT3_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| ARID2_HUMAN | -0.18 | 2.44 | 1.00 | n/a | n/a | |||
| ATF2_HUMAN | 0.65 | 2.56 | 1.67 | n/a | No Hit | |||
| NFAC2_HUMAN | -1.26 | 2.00 | 2.00 | -0.29 | Weak Discordant | |||
| STAT3_HUMAN | 1.53 | -0.37 | 1.50 | n/a | No Hit | |||
| LMBL2_HUMAN | n/a | 1.91 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood