Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.47118198G>A |
GRCh37.p13 chr 3 | NC_000003.11:g.47159688G>A |
SETD2 RefSeqGene | LRG_775 |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SETD2 transcript variant 1 | NM_014159.6:c. | N/A | Intron Variant |
SETD2 transcript variant X1 | XM_011533631.2:c. | N/A | Intron Variant |
SETD2 transcript variant X2 | XM_011533632.2:c. | N/A | Intron Variant |
SETD2 transcript variant X3 | XM_011533633.2:c. | N/A | Intron Variant |
SETD2 transcript variant X2 | XM_011533634.1:c. | N/A | Intron Variant |
SETD2 transcript variant X5 | XM_017006270.1:c. | N/A | Intron Variant |
SETD2 transcript variant X7 | XR_001740125.1:n. | N/A | Intron Variant |
SETD2 transcript variant X8 | XR_001740126.1:n. | N/A | Intron Variant |
SETD2 transcript variant X9 | XR_001740127.1:n. | N/A | Intron Variant |
SETD2 transcript variant X10 | XR_001740128.1:n. | N/A | Intron Variant |
SETD2 transcript variant X11 | XR_001740129.1:n. | N/A | Intron Variant |
SETD2 transcript variant X12 | XR_001740130.1:n. | N/A | Intron Variant |
SETD2 transcript variant X13 | XR_001740131.1:n. | N/A | Intron Variant |
SETD2 transcript variant X14 | XR_001740132.1:n. | N/A | Intron Variant |
SETD2 transcript variant X15 | XR_001740133.1:n. | N/A | Intron Variant |
SETD2 transcript variant X6 | XR_940418.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.856 | A=0.144 |
1000Genomes | American | Sub | 694 | G=0.980 | A=0.020 |
1000Genomes | East Asian | Sub | 1008 | G=1.000 | A=0.000 |
1000Genomes | Europe | Sub | 1006 | G=0.998 | A=0.002 |
1000Genomes | Global | Study-wide | 5008 | G=0.959 | A=0.041 |
1000Genomes | South Asian | Sub | 978 | G=1.000 | A=0.000 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.999 | A=0.001 |
The Genome Aggregation Database | African | Sub | 8720 | G=0.871 | A=0.129 |
The Genome Aggregation Database | American | Sub | 836 | G=0.990 | A=0.010 |
The Genome Aggregation Database | East Asian | Sub | 1622 | G=1.000 | A=0.000 |
The Genome Aggregation Database | Europe | Sub | 18486 | G=0.999 | A=0.000 |
The Genome Aggregation Database | Global | Study-wide | 29966 | G=0.961 | A=0.038 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.990 | A=0.010 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.942 | A=0.057 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.999 | A=0.001 |
PMID | Title | Author | Journal |
---|---|---|---|
20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs9828473 | 0.000684 | alcohol dependence | 20201924 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
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 ) |
---|---|---|---|---|
chr3 | 47114894 | 47115056 | E067 | -44632 |
chr3 | 47182774 | 47182917 | E067 | 23086 |
chr3 | 47182956 | 47183059 | E067 | 23268 |
chr3 | 47183216 | 47183292 | E067 | 23528 |
chr3 | 47183558 | 47183619 | E067 | 23870 |
chr3 | 47183626 | 47183683 | E067 | 23938 |
chr3 | 47191044 | 47191084 | E067 | 31356 |
chr3 | 47194193 | 47194397 | E067 | 34505 |
chr3 | 47194401 | 47194552 | E067 | 34713 |
chr3 | 47200974 | 47201199 | E067 | 41286 |
chr3 | 47201523 | 47201589 | E067 | 41835 |
chr3 | 47202433 | 47202483 | E067 | 42745 |
chr3 | 47202594 | 47202658 | E067 | 42906 |
chr3 | 47202938 | 47203004 | E067 | 43250 |
chr3 | 47169736 | 47169944 | E068 | 10048 |
chr3 | 47170078 | 47170128 | E068 | 10390 |
chr3 | 47177484 | 47177544 | E068 | 17796 |
chr3 | 47177576 | 47177656 | E068 | 17888 |
chr3 | 47182502 | 47182609 | E068 | 22814 |
chr3 | 47182774 | 47182917 | E068 | 23086 |
chr3 | 47182956 | 47183059 | E068 | 23268 |
chr3 | 47183216 | 47183292 | E068 | 23528 |
chr3 | 47183558 | 47183619 | E068 | 23870 |
chr3 | 47183626 | 47183683 | E068 | 23938 |
chr3 | 47191044 | 47191084 | E068 | 31356 |
chr3 | 47194098 | 47194138 | E068 | 34410 |
chr3 | 47194193 | 47194397 | E068 | 34505 |
chr3 | 47194401 | 47194552 | E068 | 34713 |
chr3 | 47197813 | 47198038 | E068 | 38125 |
chr3 | 47199913 | 47199987 | E068 | 40225 |
chr3 | 47200974 | 47201199 | E068 | 41286 |
chr3 | 47201523 | 47201589 | E068 | 41835 |
chr3 | 47202433 | 47202483 | E068 | 42745 |
chr3 | 47202594 | 47202658 | E068 | 42906 |
chr3 | 47202938 | 47203004 | E068 | 43250 |
chr3 | 47207836 | 47207876 | E068 | 48148 |
chr3 | 47207890 | 47207944 | E068 | 48202 |
chr3 | 47207982 | 47208112 | E068 | 48294 |
chr3 | 47118182 | 47118357 | E069 | -41331 |
chr3 | 47182956 | 47183059 | E069 | 23268 |
chr3 | 47183216 | 47183292 | E069 | 23528 |
chr3 | 47183558 | 47183619 | E069 | 23870 |
chr3 | 47200974 | 47201199 | E069 | 41286 |
chr3 | 47201523 | 47201589 | E069 | 41835 |
chr3 | 47202433 | 47202483 | E069 | 42745 |
chr3 | 47202594 | 47202658 | E069 | 42906 |
chr3 | 47202938 | 47203004 | E069 | 43250 |
chr3 | 47207600 | 47207717 | E069 | 47912 |
chr3 | 47207836 | 47207876 | E069 | 48148 |
chr3 | 47207890 | 47207944 | E069 | 48202 |
chr3 | 47207982 | 47208112 | E069 | 48294 |
chr3 | 47200974 | 47201199 | E070 | 41286 |
chr3 | 47201523 | 47201589 | E070 | 41835 |
chr3 | 47202433 | 47202483 | E070 | 42745 |
chr3 | 47202594 | 47202658 | E070 | 42906 |
chr3 | 47202938 | 47203004 | E070 | 43250 |
chr3 | 47207600 | 47207717 | E070 | 47912 |
chr3 | 47207836 | 47207876 | E070 | 48148 |
chr3 | 47207890 | 47207944 | E070 | 48202 |
chr3 | 47207982 | 47208112 | E070 | 48294 |
chr3 | 47118182 | 47118357 | E071 | -41331 |
chr3 | 47177484 | 47177544 | E071 | 17796 |
chr3 | 47177576 | 47177656 | E071 | 17888 |
chr3 | 47194193 | 47194397 | E071 | 34505 |
chr3 | 47194401 | 47194552 | E071 | 34713 |
chr3 | 47198090 | 47198140 | E071 | 38402 |
chr3 | 47200974 | 47201199 | E071 | 41286 |
chr3 | 47201523 | 47201589 | E071 | 41835 |
chr3 | 47202433 | 47202483 | E071 | 42745 |
chr3 | 47202594 | 47202658 | E071 | 42906 |
chr3 | 47202938 | 47203004 | E071 | 43250 |
chr3 | 47207600 | 47207717 | E071 | 47912 |
chr3 | 47207836 | 47207876 | E071 | 48148 |
chr3 | 47207890 | 47207944 | E071 | 48202 |
chr3 | 47207982 | 47208112 | E071 | 48294 |
chr3 | 47169736 | 47169944 | E072 | 10048 |
chr3 | 47183558 | 47183619 | E072 | 23870 |
chr3 | 47183626 | 47183683 | E072 | 23938 |
chr3 | 47200974 | 47201199 | E072 | 41286 |
chr3 | 47201523 | 47201589 | E072 | 41835 |
chr3 | 47202433 | 47202483 | E072 | 42745 |
chr3 | 47202594 | 47202658 | E072 | 42906 |
chr3 | 47202938 | 47203004 | E072 | 43250 |
chr3 | 47183558 | 47183619 | E073 | 23870 |
chr3 | 47183626 | 47183683 | E073 | 23938 |
chr3 | 47197813 | 47198038 | E073 | 38125 |
chr3 | 47198090 | 47198140 | E073 | 38402 |
chr3 | 47200974 | 47201199 | E073 | 41286 |
chr3 | 47201523 | 47201589 | E073 | 41835 |
chr3 | 47202433 | 47202483 | E073 | 42745 |
chr3 | 47202594 | 47202658 | E073 | 42906 |
chr3 | 47202938 | 47203004 | E073 | 43250 |
chr3 | 47118182 | 47118357 | E074 | -41331 |
chr3 | 47177576 | 47177656 | E074 | 17888 |
chr3 | 47177827 | 47177890 | E074 | 18139 |
chr3 | 47183558 | 47183619 | E074 | 23870 |
chr3 | 47183626 | 47183683 | E074 | 23938 |
chr3 | 47198090 | 47198140 | E074 | 38402 |
chr3 | 47199913 | 47199987 | E074 | 40225 |
chr3 | 47200974 | 47201199 | E074 | 41286 |
chr3 | 47201523 | 47201589 | E074 | 41835 |
chr3 | 47202433 | 47202483 | E074 | 42745 |
chr3 | 47202594 | 47202658 | E074 | 42906 |
chr3 | 47202938 | 47203004 | E074 | 43250 |
chr3 | 47207600 | 47207717 | E074 | 47912 |
chr3 | 47207836 | 47207876 | E074 | 48148 |
chr3 | 47207890 | 47207944 | E074 | 48202 |
chr3 | 47207982 | 47208112 | E074 | 48294 |
chr3 | 47200974 | 47201199 | E081 | 41286 |
chr3 | 47201523 | 47201589 | E081 | 41835 |
chr3 | 47202433 | 47202483 | E081 | 42745 |
chr3 | 47202594 | 47202658 | E081 | 42906 |
chr3 | 47202938 | 47203004 | E081 | 43250 |
chr3 | 47200974 | 47201199 | E082 | 41286 |
chr3 | 47201523 | 47201589 | E082 | 41835 |
chr3 | 47202433 | 47202483 | E082 | 42745 |
chr3 | 47202594 | 47202658 | E082 | 42906 |
chr3 | 47202938 | 47203004 | E082 | 43250 |
chr3 | 47207836 | 47207876 | E082 | 48148 |
chr3 | 47207890 | 47207944 | E082 | 48202 |
chr3 | 47207982 | 47208112 | E082 | 48294 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr3 | 47204075 | 47206877 | E067 | 44387 |
chr3 | 47207126 | 47207185 | E067 | 47438 |
chr3 | 47204075 | 47206877 | E068 | 44387 |
chr3 | 47204075 | 47206877 | E069 | 44387 |
chr3 | 47204075 | 47206877 | E070 | 44387 |
chr3 | 47207126 | 47207185 | E070 | 47438 |
chr3 | 47204075 | 47206877 | E071 | 44387 |
chr3 | 47207126 | 47207185 | E071 | 47438 |
chr3 | 47204075 | 47206877 | E072 | 44387 |
chr3 | 47204075 | 47206877 | E073 | 44387 |
chr3 | 47207126 | 47207185 | E073 | 47438 |
chr3 | 47204075 | 47206877 | E074 | 44387 |
chr3 | 47204075 | 47206877 | E081 | 44387 |
chr3 | 47204075 | 47206877 | E082 | 44387 |
chr3 | 47207126 | 47207185 | E082 | 47438 |