| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.275626G>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.384792G>A |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.486 | A=0.514 |
| 1000Genomes | American | Sub | 694 | G=0.780 | A=0.220 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.781 | A=0.219 |
| 1000Genomes | Europe | Sub | 1006 | G=0.772 | A=0.228 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.682 | A=0.318 |
| 1000Genomes | South Asian | Sub | 978 | G=0.690 | A=0.310 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.760 | A=0.240 |
| The Genome Aggregation Database | African | Sub | 8690 | G=0.514 | A=0.486 |
| The Genome Aggregation Database | American | Sub | 838 | G=0.830 | A=0.170 |
| The Genome Aggregation Database | East Asian | Sub | 1618 | G=0.773 | A=0.227 |
| The Genome Aggregation Database | Europe | Sub | 18452 | G=0.735 | A=0.264 |
| The Genome Aggregation Database | Global | Study-wide | 29900 | G=0.676 | A=0.323 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.780 | A=0.220 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.647 | A=0.352 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.749 | A=0.251 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
| 19430479 | Genome-wide association study of blood pressure and hypertension. | Levy D | Nat Genet |
| 21045733 | Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study. | Ho JE | J Hypertens |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs525381 | 0.000827 | alcohol dependence | 20201924 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
|---|---|---|---|---|---|---|
| Chr12:384792 | CCDC77 | ENSG00000120647.5 | G>A | 3.5129e-4 | -113829 | Cerebellum |
| Chr12:384792 | CCDC77 | ENSG00000120647.5 | G>A | 1.0338e-6 | -113829 | Frontal_Cortex_BA9 |
| Chr12:384792 | CCDC77 | ENSG00000120647.5 | G>A | 3.4736e-7 | -113829 | Hypothalamus |
| Chr12:384792 | CCDC77 | ENSG00000120647.5 | G>A | 9.7596e-5 | -113829 | Cortex |
| Chr12:384792 | CCDC77 | ENSG00000120647.5 | G>A | 9.9264e-7 | -113829 | Cerebellar_Hemisphere |
| Chr12:384792 | CCDC77 | ENSG00000120647.5 | G>A | 3.8561e-4 | -113829 | Caudate_basal_ganglia |
| Chr12:384792 | CCDC77 | ENSG00000120647.5 | G>A | 2.0037e-7 | -113829 | Brain_Spinal_cord_cervical |
| Chr12:384792 | CCDC77 | ENSG00000120647.5 | G>A | 2.6466e-6 | -113829 | Putamen_basal_ganglia |
| Probe ID | Position | Gene | beta | p-value | |||
|---|---|---|---|---|---|---|---|
| There is no meQTL annotation for this SNP | |||||||
There is no significant Hi-C chromatin interaction data for this SNP.
| Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
|---|---|---|---|---|
| chr12 | 338468 | 338518 | E067 | -46274 |
| chr12 | 340207 | 340858 | E067 | -43934 |
| chr12 | 341084 | 341134 | E067 | -43658 |
| chr12 | 341461 | 341515 | E067 | -43277 |
| chr12 | 376855 | 377134 | E067 | -7658 |
| chr12 | 377142 | 377542 | E067 | -7250 |
| chr12 | 377568 | 377907 | E067 | -6885 |
| chr12 | 382350 | 382410 | E067 | -2382 |
| chr12 | 382523 | 382612 | E067 | -2180 |
| chr12 | 413899 | 414270 | E067 | 29107 |
| chr12 | 414851 | 414901 | E067 | 30059 |
| chr12 | 337943 | 338003 | E068 | -46789 |
| chr12 | 338158 | 338198 | E068 | -46594 |
| chr12 | 338305 | 338356 | E068 | -46436 |
| chr12 | 338468 | 338518 | E068 | -46274 |
| chr12 | 338564 | 338618 | E068 | -46174 |
| chr12 | 338639 | 338743 | E068 | -46049 |
| chr12 | 338799 | 338875 | E068 | -45917 |
| chr12 | 338999 | 339333 | E068 | -45459 |
| chr12 | 339835 | 339925 | E068 | -44867 |
| chr12 | 339961 | 340096 | E068 | -44696 |
| chr12 | 340207 | 340858 | E068 | -43934 |
| chr12 | 341084 | 341134 | E068 | -43658 |
| chr12 | 366555 | 366595 | E068 | -18197 |
| chr12 | 376748 | 376817 | E068 | -7975 |
| chr12 | 376855 | 377134 | E068 | -7658 |
| chr12 | 377568 | 377907 | E068 | -6885 |
| chr12 | 381335 | 381434 | E068 | -3358 |
| chr12 | 381503 | 381570 | E068 | -3222 |
| chr12 | 381635 | 381689 | E068 | -3103 |
| chr12 | 382350 | 382410 | E068 | -2382 |
| chr12 | 382523 | 382612 | E068 | -2180 |
| chr12 | 382813 | 382930 | E068 | -1862 |
| chr12 | 336934 | 337041 | E069 | -47751 |
| chr12 | 337421 | 337515 | E069 | -47277 |
| chr12 | 337578 | 337636 | E069 | -47156 |
| chr12 | 337657 | 337699 | E069 | -47093 |
| chr12 | 337943 | 338003 | E069 | -46789 |
| chr12 | 338158 | 338198 | E069 | -46594 |
| chr12 | 338305 | 338356 | E069 | -46436 |
| chr12 | 338468 | 338518 | E069 | -46274 |
| chr12 | 338564 | 338618 | E069 | -46174 |
| chr12 | 338639 | 338743 | E069 | -46049 |
| chr12 | 338799 | 338875 | E069 | -45917 |
| chr12 | 339835 | 339925 | E069 | -44867 |
| chr12 | 339961 | 340096 | E069 | -44696 |
| chr12 | 340207 | 340858 | E069 | -43934 |
| chr12 | 341084 | 341134 | E069 | -43658 |
| chr12 | 341461 | 341515 | E069 | -43277 |
| chr12 | 376748 | 376817 | E069 | -7975 |
| chr12 | 376855 | 377134 | E069 | -7658 |
| chr12 | 377142 | 377542 | E069 | -7250 |
| chr12 | 377568 | 377907 | E069 | -6885 |
| chr12 | 378096 | 378225 | E069 | -6567 |
| chr12 | 380239 | 380289 | E069 | -4503 |
| chr12 | 414851 | 414901 | E069 | 30059 |
| chr12 | 338468 | 338518 | E070 | -46274 |
| chr12 | 338564 | 338618 | E070 | -46174 |
| chr12 | 338639 | 338743 | E070 | -46049 |
| chr12 | 338799 | 338875 | E070 | -45917 |
| chr12 | 338999 | 339333 | E070 | -45459 |
| chr12 | 340207 | 340858 | E070 | -43934 |
| chr12 | 341084 | 341134 | E070 | -43658 |
| chr12 | 341461 | 341515 | E070 | -43277 |
| chr12 | 341676 | 341731 | E070 | -43061 |
| chr12 | 342236 | 342392 | E070 | -42400 |
| chr12 | 342424 | 343082 | E070 | -41710 |
| chr12 | 343272 | 343403 | E070 | -41389 |
| chr12 | 376855 | 377134 | E070 | -7658 |
| chr12 | 377142 | 377542 | E070 | -7250 |
| chr12 | 378841 | 378885 | E070 | -5907 |
| chr12 | 378919 | 378978 | E070 | -5814 |
| chr12 | 337421 | 337515 | E071 | -47277 |
| chr12 | 337578 | 337636 | E071 | -47156 |
| chr12 | 337657 | 337699 | E071 | -47093 |
| chr12 | 337943 | 338003 | E071 | -46789 |
| chr12 | 338158 | 338198 | E071 | -46594 |
| chr12 | 338305 | 338356 | E071 | -46436 |
| chr12 | 338468 | 338518 | E071 | -46274 |
| chr12 | 338564 | 338618 | E071 | -46174 |
| chr12 | 338639 | 338743 | E071 | -46049 |
| chr12 | 338799 | 338875 | E071 | -45917 |
| chr12 | 338999 | 339333 | E071 | -45459 |
| chr12 | 339835 | 339925 | E071 | -44867 |
| chr12 | 339961 | 340096 | E071 | -44696 |
| chr12 | 340207 | 340858 | E071 | -43934 |
| chr12 | 341084 | 341134 | E071 | -43658 |
| chr12 | 341461 | 341515 | E071 | -43277 |
| chr12 | 341676 | 341731 | E071 | -43061 |
| chr12 | 342236 | 342392 | E071 | -42400 |
| chr12 | 342424 | 343082 | E071 | -41710 |
| chr12 | 376748 | 376817 | E071 | -7975 |
| chr12 | 376855 | 377134 | E071 | -7658 |
| chr12 | 378096 | 378225 | E071 | -6567 |
| chr12 | 378367 | 378693 | E071 | -6099 |
| chr12 | 380239 | 380289 | E071 | -4503 |
| chr12 | 380407 | 380661 | E071 | -4131 |
| chr12 | 382350 | 382410 | E071 | -2382 |
| chr12 | 382523 | 382612 | E071 | -2180 |
| chr12 | 413618 | 413823 | E071 | 28826 |
| chr12 | 413899 | 414270 | E071 | 29107 |
| chr12 | 414851 | 414901 | E071 | 30059 |
| chr12 | 337943 | 338003 | E072 | -46789 |
| chr12 | 338158 | 338198 | E072 | -46594 |
| chr12 | 338305 | 338356 | E072 | -46436 |
| chr12 | 339835 | 339925 | E072 | -44867 |
| chr12 | 339961 | 340096 | E072 | -44696 |
| chr12 | 341084 | 341134 | E072 | -43658 |
| chr12 | 376855 | 377134 | E072 | -7658 |
| chr12 | 377142 | 377542 | E072 | -7250 |
| chr12 | 377568 | 377907 | E072 | -6885 |
| chr12 | 382350 | 382410 | E072 | -2382 |
| chr12 | 382523 | 382612 | E072 | -2180 |
| chr12 | 423134 | 423196 | E072 | 38342 |
| chr12 | 423334 | 423384 | E072 | 38542 |
| chr12 | 336934 | 337041 | E073 | -47751 |
| chr12 | 337421 | 337515 | E073 | -47277 |
| chr12 | 337578 | 337636 | E073 | -47156 |
| chr12 | 337657 | 337699 | E073 | -47093 |
| chr12 | 337943 | 338003 | E073 | -46789 |
| chr12 | 338158 | 338198 | E073 | -46594 |
| chr12 | 338305 | 338356 | E073 | -46436 |
| chr12 | 338468 | 338518 | E073 | -46274 |
| chr12 | 338564 | 338618 | E073 | -46174 |
| chr12 | 338639 | 338743 | E073 | -46049 |
| chr12 | 338799 | 338875 | E073 | -45917 |
| chr12 | 339961 | 340096 | E073 | -44696 |
| chr12 | 340207 | 340858 | E073 | -43934 |
| chr12 | 341084 | 341134 | E073 | -43658 |
| chr12 | 341461 | 341515 | E073 | -43277 |
| chr12 | 341676 | 341731 | E073 | -43061 |
| chr12 | 342236 | 342392 | E073 | -42400 |
| chr12 | 342424 | 343082 | E073 | -41710 |
| chr12 | 366555 | 366595 | E073 | -18197 |
| chr12 | 376469 | 376610 | E073 | -8182 |
| chr12 | 376748 | 376817 | E073 | -7975 |
| chr12 | 380239 | 380289 | E073 | -4503 |
| chr12 | 380407 | 380661 | E073 | -4131 |
| chr12 | 413899 | 414270 | E073 | 29107 |
| chr12 | 337943 | 338003 | E074 | -46789 |
| chr12 | 338158 | 338198 | E074 | -46594 |
| chr12 | 338305 | 338356 | E074 | -46436 |
| chr12 | 338468 | 338518 | E074 | -46274 |
| chr12 | 338564 | 338618 | E074 | -46174 |
| chr12 | 338639 | 338743 | E074 | -46049 |
| chr12 | 338799 | 338875 | E074 | -45917 |
| chr12 | 339835 | 339925 | E074 | -44867 |
| chr12 | 339961 | 340096 | E074 | -44696 |
| chr12 | 341084 | 341134 | E074 | -43658 |
| chr12 | 341461 | 341515 | E074 | -43277 |
| chr12 | 341676 | 341731 | E074 | -43061 |
| chr12 | 376855 | 377134 | E074 | -7658 |
| chr12 | 377142 | 377542 | E074 | -7250 |
| chr12 | 377568 | 377907 | E074 | -6885 |
| chr12 | 335655 | 335835 | E081 | -48957 |
| chr12 | 335942 | 336065 | E081 | -48727 |
| chr12 | 338564 | 338618 | E081 | -46174 |
| chr12 | 338639 | 338743 | E081 | -46049 |
| chr12 | 338799 | 338875 | E081 | -45917 |
| chr12 | 338999 | 339333 | E081 | -45459 |
| chr12 | 339835 | 339925 | E081 | -44867 |
| chr12 | 339961 | 340096 | E081 | -44696 |
| chr12 | 340207 | 340858 | E081 | -43934 |
| chr12 | 341084 | 341134 | E081 | -43658 |
| chr12 | 341461 | 341515 | E081 | -43277 |
| chr12 | 341676 | 341731 | E081 | -43061 |
| chr12 | 342236 | 342392 | E081 | -42400 |
| chr12 | 342424 | 343082 | E081 | -41710 |
| chr12 | 376855 | 377134 | E081 | -7658 |
| chr12 | 377142 | 377542 | E081 | -7250 |
| chr12 | 380239 | 380289 | E081 | -4503 |
| chr12 | 380407 | 380661 | E081 | -4131 |
| chr12 | 340207 | 340858 | E082 | -43934 |
| chr12 | 341084 | 341134 | E082 | -43658 |
| chr12 | 342236 | 342392 | E082 | -42400 |
| chr12 | 342424 | 343082 | E082 | -41710 |