Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.200438287G>T |
GRCh37.p13 chr 2 | NC_000002.11:g.201303010G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SPATS2L transcript variant 2 | NM_001100422.1:c. | N/A | Intron Variant |
SPATS2L transcript variant 3 | NM_001100423.1:c. | N/A | Intron Variant |
SPATS2L transcript variant 4 | NM_001100424.1:c. | N/A | Intron Variant |
SPATS2L transcript variant 5 | NM_001282735.1:c. | N/A | Intron Variant |
SPATS2L transcript variant 6 | NM_001282743.1:c. | N/A | Intron Variant |
SPATS2L transcript variant 7 | NM_001282744.1:c. | N/A | Intron Variant |
SPATS2L transcript variant 1 | NM_015535.2:c. | N/A | Intron Variant |
SPATS2L transcript variant X5 | XM_005246456.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X7 | XM_005246457.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X4 | XM_005246458.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X10 | XM_005246459.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X1 | XM_011510938.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X3 | XM_011510939.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X2 | XM_017003783.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X7 | XM_017003784.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X9 | XM_017003785.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X13 | XM_017003786.1:c. | N/A | Intron Variant |
SPATS2L transcript variant X14 | XM_017003787.1:c. | N/A | Intron Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC101927741 transcript variant X2 | XR_001739165.1:n. | N/A | Intron Variant |
LOC101927741 transcript variant X3 | XR_001739166.1:n. | N/A | Intron Variant |
LOC101927741 transcript variant X4 | XR_001739167.1:n. | N/A | Intron Variant |
LOC101927741 transcript variant X1 | XR_001739164.1:n. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.836 | T=0.164 |
1000Genomes | American | Sub | 694 | G=0.690 | T=0.310 |
1000Genomes | East Asian | Sub | 1008 | G=0.598 | T=0.402 |
1000Genomes | Europe | Sub | 1006 | G=0.622 | T=0.378 |
1000Genomes | Global | Study-wide | 5008 | G=0.673 | T=0.327 |
1000Genomes | South Asian | Sub | 978 | G=0.570 | T=0.430 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.604 | T=0.396 |
The Genome Aggregation Database | African | Sub | 8648 | G=0.804 | T=0.196 |
The Genome Aggregation Database | American | Sub | 826 | G=0.690 | T=0.310 |
The Genome Aggregation Database | East Asian | Sub | 1606 | G=0.570 | T=0.430 |
The Genome Aggregation Database | Europe | Sub | 18442 | G=0.617 | T=0.382 |
The Genome Aggregation Database | Global | Study-wide | 29822 | G=0.671 | T=0.329 |
The Genome Aggregation Database | Other | Sub | 300 | G=0.610 | T=0.390 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.699 | T=0.300 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.612 | T=0.388 |
PMID | Title | Author | Journal |
---|---|---|---|
28714907 | Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis. | Treutlein J | Genes (Basel) |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs2028201 | 5E-06 | alcohol dependence | 28714907 |
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 ) |
---|---|---|---|---|
chr2 | 201261417 | 201261938 | E067 | -41072 |
chr2 | 201261955 | 201262047 | E067 | -40963 |
chr2 | 201262464 | 201262894 | E067 | -40116 |
chr2 | 201270074 | 201271500 | E067 | -31510 |
chr2 | 201271759 | 201271809 | E067 | -31201 |
chr2 | 201273090 | 201273630 | E067 | -29380 |
chr2 | 201276649 | 201276874 | E067 | -26136 |
chr2 | 201307185 | 201307695 | E067 | 4175 |
chr2 | 201307841 | 201307955 | E067 | 4831 |
chr2 | 201308731 | 201309011 | E067 | 5721 |
chr2 | 201309444 | 201309496 | E067 | 6434 |
chr2 | 201309674 | 201309727 | E067 | 6664 |
chr2 | 201310279 | 201310329 | E067 | 7269 |
chr2 | 201318691 | 201318762 | E067 | 15681 |
chr2 | 201318794 | 201318927 | E067 | 15784 |
chr2 | 201319883 | 201320148 | E067 | 16873 |
chr2 | 201320267 | 201320490 | E067 | 17257 |
chr2 | 201320600 | 201320654 | E067 | 17590 |
chr2 | 201320711 | 201321204 | E067 | 17701 |
chr2 | 201321478 | 201321551 | E067 | 18468 |
chr2 | 201322340 | 201322483 | E067 | 19330 |
chr2 | 201332615 | 201332662 | E067 | 29605 |
chr2 | 201332755 | 201333059 | E067 | 29745 |
chr2 | 201333093 | 201333239 | E067 | 30083 |
chr2 | 201333304 | 201333593 | E067 | 30294 |
chr2 | 201333605 | 201333645 | E067 | 30595 |
chr2 | 201333948 | 201334140 | E067 | 30938 |
chr2 | 201334362 | 201334847 | E067 | 31352 |
chr2 | 201334874 | 201334950 | E067 | 31864 |
chr2 | 201262464 | 201262894 | E068 | -40116 |
chr2 | 201270074 | 201271500 | E068 | -31510 |
chr2 | 201271759 | 201271809 | E068 | -31201 |
chr2 | 201307185 | 201307695 | E068 | 4175 |
chr2 | 201318691 | 201318762 | E068 | 15681 |
chr2 | 201318794 | 201318927 | E068 | 15784 |
chr2 | 201319011 | 201319123 | E068 | 16001 |
chr2 | 201319883 | 201320148 | E068 | 16873 |
chr2 | 201320267 | 201320490 | E068 | 17257 |
chr2 | 201320600 | 201320654 | E068 | 17590 |
chr2 | 201320711 | 201321204 | E068 | 17701 |
chr2 | 201321478 | 201321551 | E068 | 18468 |
chr2 | 201322340 | 201322483 | E068 | 19330 |
chr2 | 201330226 | 201330266 | E068 | 27216 |
chr2 | 201332615 | 201332662 | E068 | 29605 |
chr2 | 201332755 | 201333059 | E068 | 29745 |
chr2 | 201333093 | 201333239 | E068 | 30083 |
chr2 | 201333304 | 201333593 | E068 | 30294 |
chr2 | 201333605 | 201333645 | E068 | 30595 |
chr2 | 201333948 | 201334140 | E068 | 30938 |
chr2 | 201334362 | 201334847 | E068 | 31352 |
chr2 | 201334874 | 201334950 | E068 | 31864 |
chr2 | 201334999 | 201335414 | E068 | 31989 |
chr2 | 201335595 | 201335692 | E068 | 32585 |
chr2 | 201336063 | 201336399 | E068 | 33053 |
chr2 | 201341337 | 201341402 | E068 | 38327 |
chr2 | 201261417 | 201261938 | E069 | -41072 |
chr2 | 201261955 | 201262047 | E069 | -40963 |
chr2 | 201262464 | 201262894 | E069 | -40116 |
chr2 | 201270074 | 201271500 | E069 | -31510 |
chr2 | 201272890 | 201273014 | E069 | -29996 |
chr2 | 201273090 | 201273630 | E069 | -29380 |
chr2 | 201307185 | 201307695 | E069 | 4175 |
chr2 | 201314086 | 201314147 | E069 | 11076 |
chr2 | 201318691 | 201318762 | E069 | 15681 |
chr2 | 201318794 | 201318927 | E069 | 15784 |
chr2 | 201320267 | 201320490 | E069 | 17257 |
chr2 | 201320600 | 201320654 | E069 | 17590 |
chr2 | 201320711 | 201321204 | E069 | 17701 |
chr2 | 201321478 | 201321551 | E069 | 18468 |
chr2 | 201322340 | 201322483 | E069 | 19330 |
chr2 | 201332615 | 201332662 | E069 | 29605 |
chr2 | 201332755 | 201333059 | E069 | 29745 |
chr2 | 201333093 | 201333239 | E069 | 30083 |
chr2 | 201333304 | 201333593 | E069 | 30294 |
chr2 | 201333605 | 201333645 | E069 | 30595 |
chr2 | 201333948 | 201334140 | E069 | 30938 |
chr2 | 201334362 | 201334847 | E069 | 31352 |
chr2 | 201334999 | 201335414 | E069 | 31989 |
chr2 | 201335595 | 201335692 | E069 | 32585 |
chr2 | 201336063 | 201336399 | E069 | 33053 |
chr2 | 201336838 | 201337160 | E069 | 33828 |
chr2 | 201341337 | 201341402 | E069 | 38327 |
chr2 | 201261417 | 201261938 | E070 | -41072 |
chr2 | 201261955 | 201262047 | E070 | -40963 |
chr2 | 201281701 | 201281843 | E070 | -21167 |
chr2 | 201282098 | 201282178 | E070 | -20832 |
chr2 | 201282285 | 201282390 | E070 | -20620 |
chr2 | 201318691 | 201318762 | E070 | 15681 |
chr2 | 201320267 | 201320490 | E070 | 17257 |
chr2 | 201320600 | 201320654 | E070 | 17590 |
chr2 | 201320711 | 201321204 | E070 | 17701 |
chr2 | 201321478 | 201321551 | E070 | 18468 |
chr2 | 201328287 | 201328459 | E070 | 25277 |
chr2 | 201334362 | 201334847 | E070 | 31352 |
chr2 | 201334874 | 201334950 | E070 | 31864 |
chr2 | 201334999 | 201335414 | E070 | 31989 |
chr2 | 201262464 | 201262894 | E071 | -40116 |
chr2 | 201270074 | 201271500 | E071 | -31510 |
chr2 | 201272580 | 201272630 | E071 | -30380 |
chr2 | 201272672 | 201272817 | E071 | -30193 |
chr2 | 201272890 | 201273014 | E071 | -29996 |
chr2 | 201273090 | 201273630 | E071 | -29380 |
chr2 | 201276649 | 201276874 | E071 | -26136 |
chr2 | 201318691 | 201318762 | E071 | 15681 |
chr2 | 201318794 | 201318927 | E071 | 15784 |
chr2 | 201319011 | 201319123 | E071 | 16001 |
chr2 | 201319883 | 201320148 | E071 | 16873 |
chr2 | 201320267 | 201320490 | E071 | 17257 |
chr2 | 201320600 | 201320654 | E071 | 17590 |
chr2 | 201320711 | 201321204 | E071 | 17701 |
chr2 | 201321478 | 201321551 | E071 | 18468 |
chr2 | 201322340 | 201322483 | E071 | 19330 |
chr2 | 201324284 | 201324354 | E071 | 21274 |
chr2 | 201332615 | 201332662 | E071 | 29605 |
chr2 | 201332755 | 201333059 | E071 | 29745 |
chr2 | 201333093 | 201333239 | E071 | 30083 |
chr2 | 201333304 | 201333593 | E071 | 30294 |
chr2 | 201333605 | 201333645 | E071 | 30595 |
chr2 | 201333948 | 201334140 | E071 | 30938 |
chr2 | 201334362 | 201334847 | E071 | 31352 |
chr2 | 201334999 | 201335414 | E071 | 31989 |
chr2 | 201335595 | 201335692 | E071 | 32585 |
chr2 | 201336063 | 201336399 | E071 | 33053 |
chr2 | 201336838 | 201337160 | E071 | 33828 |
chr2 | 201262464 | 201262894 | E072 | -40116 |
chr2 | 201270074 | 201271500 | E072 | -31510 |
chr2 | 201273090 | 201273630 | E072 | -29380 |
chr2 | 201276649 | 201276874 | E072 | -26136 |
chr2 | 201314086 | 201314147 | E072 | 11076 |
chr2 | 201314560 | 201314643 | E072 | 11550 |
chr2 | 201318691 | 201318762 | E072 | 15681 |
chr2 | 201318794 | 201318927 | E072 | 15784 |
chr2 | 201320267 | 201320490 | E072 | 17257 |
chr2 | 201320600 | 201320654 | E072 | 17590 |
chr2 | 201320711 | 201321204 | E072 | 17701 |
chr2 | 201321478 | 201321551 | E072 | 18468 |
chr2 | 201322340 | 201322483 | E072 | 19330 |
chr2 | 201324284 | 201324354 | E072 | 21274 |
chr2 | 201332615 | 201332662 | E072 | 29605 |
chr2 | 201332755 | 201333059 | E072 | 29745 |
chr2 | 201333093 | 201333239 | E072 | 30083 |
chr2 | 201333304 | 201333593 | E072 | 30294 |
chr2 | 201333605 | 201333645 | E072 | 30595 |
chr2 | 201333948 | 201334140 | E072 | 30938 |
chr2 | 201335595 | 201335692 | E072 | 32585 |
chr2 | 201336063 | 201336399 | E072 | 33053 |
chr2 | 201261955 | 201262047 | E073 | -40963 |
chr2 | 201262464 | 201262894 | E073 | -40116 |
chr2 | 201270074 | 201271500 | E073 | -31510 |
chr2 | 201272890 | 201273014 | E073 | -29996 |
chr2 | 201320267 | 201320490 | E073 | 17257 |
chr2 | 201320600 | 201320654 | E073 | 17590 |
chr2 | 201320711 | 201321204 | E073 | 17701 |
chr2 | 201321478 | 201321551 | E073 | 18468 |
chr2 | 201322340 | 201322483 | E073 | 19330 |
chr2 | 201332615 | 201332662 | E073 | 29605 |
chr2 | 201332755 | 201333059 | E073 | 29745 |
chr2 | 201333093 | 201333239 | E073 | 30083 |
chr2 | 201334999 | 201335414 | E073 | 31989 |
chr2 | 201335595 | 201335692 | E073 | 32585 |
chr2 | 201261417 | 201261938 | E074 | -41072 |
chr2 | 201261955 | 201262047 | E074 | -40963 |
chr2 | 201262464 | 201262894 | E074 | -40116 |
chr2 | 201270074 | 201271500 | E074 | -31510 |
chr2 | 201271759 | 201271809 | E074 | -31201 |
chr2 | 201307185 | 201307695 | E074 | 4175 |
chr2 | 201307841 | 201307955 | E074 | 4831 |
chr2 | 201308731 | 201309011 | E074 | 5721 |
chr2 | 201309444 | 201309496 | E074 | 6434 |
chr2 | 201309674 | 201309727 | E074 | 6664 |
chr2 | 201318691 | 201318762 | E074 | 15681 |
chr2 | 201318794 | 201318927 | E074 | 15784 |
chr2 | 201320267 | 201320490 | E074 | 17257 |
chr2 | 201320600 | 201320654 | E074 | 17590 |
chr2 | 201320711 | 201321204 | E074 | 17701 |
chr2 | 201321478 | 201321551 | E074 | 18468 |
chr2 | 201322340 | 201322483 | E074 | 19330 |
chr2 | 201324284 | 201324354 | E074 | 21274 |
chr2 | 201330226 | 201330266 | E074 | 27216 |
chr2 | 201332615 | 201332662 | E074 | 29605 |
chr2 | 201332755 | 201333059 | E074 | 29745 |
chr2 | 201333093 | 201333239 | E074 | 30083 |
chr2 | 201333304 | 201333593 | E074 | 30294 |
chr2 | 201333605 | 201333645 | E074 | 30595 |
chr2 | 201333948 | 201334140 | E074 | 30938 |
chr2 | 201334362 | 201334847 | E074 | 31352 |
chr2 | 201334874 | 201334950 | E074 | 31864 |
chr2 | 201334999 | 201335414 | E074 | 31989 |
chr2 | 201335595 | 201335692 | E074 | 32585 |
chr2 | 201336063 | 201336399 | E074 | 33053 |
chr2 | 201336838 | 201337160 | E074 | 33828 |
chr2 | 201261417 | 201261938 | E081 | -41072 |
chr2 | 201261955 | 201262047 | E081 | -40963 |
chr2 | 201262464 | 201262894 | E081 | -40116 |
chr2 | 201334362 | 201334847 | E081 | 31352 |
chr2 | 201334874 | 201334950 | E081 | 31864 |
chr2 | 201261955 | 201262047 | E082 | -40963 |
chr2 | 201262464 | 201262894 | E082 | -40116 |
chr2 | 201303549 | 201303953 | E082 | 539 |
chr2 | 201304004 | 201304150 | E082 | 994 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 201341676 | 201341814 | E067 | 38666 |
chr2 | 201341955 | 201342005 | E067 | 38945 |
chr2 | 201341676 | 201341814 | E068 | 38666 |
chr2 | 201341955 | 201342005 | E068 | 38945 |
chr2 | 201341676 | 201341814 | E069 | 38666 |
chr2 | 201341955 | 201342005 | E069 | 38945 |
chr2 | 201342362 | 201342467 | E069 | 39352 |
chr2 | 201342527 | 201342611 | E069 | 39517 |
chr2 | 201341676 | 201341814 | E071 | 38666 |
chr2 | 201341955 | 201342005 | E071 | 38945 |
chr2 | 201342362 | 201342467 | E071 | 39352 |
chr2 | 201342527 | 201342611 | E071 | 39517 |
chr2 | 201341676 | 201341814 | E072 | 38666 |
chr2 | 201341955 | 201342005 | E072 | 38945 |
chr2 | 201342362 | 201342467 | E072 | 39352 |
chr2 | 201342527 | 201342611 | E072 | 39517 |
chr2 | 201341676 | 201341814 | E074 | 38666 |
chr2 | 201341955 | 201342005 | E074 | 38945 |
chr2 | 201342362 | 201342467 | E074 | 39352 |
chr2 | 201342527 | 201342611 | E074 | 39517 |