Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.198075883T>C |
GRCh38.p7 chr 2 | NC_000002.12:g.198075883T>G |
GRCh37.p13 chr 2 | NC_000002.11:g.198940607T>C |
GRCh37.p13 chr 2 | NC_000002.11:g.198940607T>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
PLCL1 transcript | NM_006226.3:c. | N/A | Intron Variant |
PLCL1 transcript variant X1 | XM_005246643.3:c. | N/A | Intron Variant |
PLCL1 transcript variant X4 | XM_005246644.3:c. | N/A | Intron Variant |
PLCL1 transcript variant X3 | XM_011511351.2:c. | N/A | Intron Variant |
PLCL1 transcript variant X2 | XM_017004339.1:c. | N/A | Intron Variant |
PLCL1 transcript variant X5 | XM_017004340.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | T=0.769 | C=0.231 |
1000Genomes | American | Sub | 694 | T=0.590 | C=0.410 |
1000Genomes | East Asian | Sub | 1008 | T=0.778 | C=0.222 |
1000Genomes | Europe | Sub | 1006 | T=0.449 | C=0.551 |
1000Genomes | Global | Study-wide | 5008 | T=0.614 | C=0.386 |
1000Genomes | South Asian | Sub | 978 | T=0.430 | C=0.570 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.483 | C=0.517 |
The Genome Aggregation Database | African | Sub | 8712 | T=0.725 | C=0.275 |
The Genome Aggregation Database | American | Sub | 834 | T=0.670 | C=0.330 |
The Genome Aggregation Database | East Asian | Sub | 1614 | T=0.802 | C=0.198 |
The Genome Aggregation Database | Europe | Sub | 18472 | T=0.516 | C=0.483 |
The Genome Aggregation Database | Global | Study-wide | 29934 | T=0.596 | C=0.403 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.480 | C=0.520 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.491 | C=0.509 |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1866666 | 7.79E-06 | alcohol consumption | 23743675 |
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 | 96675128 | 96675208 | E067 | -18003 |
chr2 | 96675397 | 96675458 | E067 | -17753 |
chr2 | 96685517 | 96685600 | E067 | -7611 |
chr2 | 96688409 | 96688794 | E067 | -4417 |
chr2 | 96690219 | 96690311 | E067 | -2900 |
chr2 | 96690894 | 96691115 | E067 | -2096 |
chr2 | 96727541 | 96727591 | E067 | 34330 |
chr2 | 96727749 | 96727789 | E067 | 34538 |
chr2 | 96728300 | 96728350 | E067 | 35089 |
chr2 | 96728906 | 96728995 | E067 | 35695 |
chr2 | 96729061 | 96729220 | E067 | 35850 |
chr2 | 96729236 | 96729411 | E067 | 36025 |
chr2 | 96729435 | 96729526 | E067 | 36224 |
chr2 | 96729587 | 96729637 | E067 | 36376 |
chr2 | 96730063 | 96730111 | E067 | 36852 |
chr2 | 96733907 | 96733979 | E067 | 40696 |
chr2 | 96738356 | 96738432 | E067 | 45145 |
chr2 | 96738531 | 96738829 | E067 | 45320 |
chr2 | 96678403 | 96678483 | E068 | -14728 |
chr2 | 96678777 | 96678849 | E068 | -14362 |
chr2 | 96678878 | 96678918 | E068 | -14293 |
chr2 | 96679280 | 96679320 | E068 | -13891 |
chr2 | 96685517 | 96685600 | E068 | -7611 |
chr2 | 96689034 | 96689124 | E068 | -4087 |
chr2 | 96689145 | 96689198 | E068 | -4013 |
chr2 | 96690219 | 96690311 | E068 | -2900 |
chr2 | 96690894 | 96691115 | E068 | -2096 |
chr2 | 96726360 | 96726417 | E068 | 33149 |
chr2 | 96727541 | 96727591 | E068 | 34330 |
chr2 | 96727749 | 96727789 | E068 | 34538 |
chr2 | 96729061 | 96729220 | E068 | 35850 |
chr2 | 96729236 | 96729411 | E068 | 36025 |
chr2 | 96729435 | 96729526 | E068 | 36224 |
chr2 | 96729587 | 96729637 | E068 | 36376 |
chr2 | 96733649 | 96733789 | E068 | 40438 |
chr2 | 96733907 | 96733979 | E068 | 40696 |
chr2 | 96734263 | 96734351 | E068 | 41052 |
chr2 | 96737009 | 96737074 | E068 | 43798 |
chr2 | 96737317 | 96737373 | E068 | 44106 |
chr2 | 96737551 | 96737672 | E068 | 44340 |
chr2 | 96737791 | 96738086 | E068 | 44580 |
chr2 | 96738356 | 96738432 | E068 | 45145 |
chr2 | 96738531 | 96738829 | E068 | 45320 |
chr2 | 96675128 | 96675208 | E069 | -18003 |
chr2 | 96675397 | 96675458 | E069 | -17753 |
chr2 | 96678777 | 96678849 | E069 | -14362 |
chr2 | 96678878 | 96678918 | E069 | -14293 |
chr2 | 96679280 | 96679320 | E069 | -13891 |
chr2 | 96679389 | 96679489 | E069 | -13722 |
chr2 | 96685517 | 96685600 | E069 | -7611 |
chr2 | 96690894 | 96691115 | E069 | -2096 |
chr2 | 96727541 | 96727591 | E069 | 34330 |
chr2 | 96727749 | 96727789 | E069 | 34538 |
chr2 | 96728300 | 96728350 | E069 | 35089 |
chr2 | 96728411 | 96728462 | E069 | 35200 |
chr2 | 96728906 | 96728995 | E069 | 35695 |
chr2 | 96729061 | 96729220 | E069 | 35850 |
chr2 | 96729236 | 96729411 | E069 | 36025 |
chr2 | 96729435 | 96729526 | E069 | 36224 |
chr2 | 96729587 | 96729637 | E069 | 36376 |
chr2 | 96730063 | 96730111 | E069 | 36852 |
chr2 | 96737009 | 96737074 | E069 | 43798 |
chr2 | 96737317 | 96737373 | E069 | 44106 |
chr2 | 96737551 | 96737672 | E069 | 44340 |
chr2 | 96737791 | 96738086 | E069 | 44580 |
chr2 | 96738356 | 96738432 | E069 | 45145 |
chr2 | 96675128 | 96675208 | E070 | -18003 |
chr2 | 96675397 | 96675458 | E070 | -17753 |
chr2 | 96733199 | 96733298 | E070 | 39988 |
chr2 | 96733649 | 96733789 | E070 | 40438 |
chr2 | 96733907 | 96733979 | E070 | 40696 |
chr2 | 96734263 | 96734351 | E070 | 41052 |
chr2 | 96737009 | 96737074 | E070 | 43798 |
chr2 | 96737317 | 96737373 | E070 | 44106 |
chr2 | 96737551 | 96737672 | E070 | 44340 |
chr2 | 96738531 | 96738829 | E070 | 45320 |
chr2 | 96739166 | 96739496 | E070 | 45955 |
chr2 | 96675128 | 96675208 | E071 | -18003 |
chr2 | 96678065 | 96678295 | E071 | -14916 |
chr2 | 96678403 | 96678483 | E071 | -14728 |
chr2 | 96678777 | 96678849 | E071 | -14362 |
chr2 | 96685517 | 96685600 | E071 | -7611 |
chr2 | 96689034 | 96689124 | E071 | -4087 |
chr2 | 96689145 | 96689198 | E071 | -4013 |
chr2 | 96690894 | 96691115 | E071 | -2096 |
chr2 | 96727541 | 96727591 | E071 | 34330 |
chr2 | 96727749 | 96727789 | E071 | 34538 |
chr2 | 96728300 | 96728350 | E071 | 35089 |
chr2 | 96728411 | 96728462 | E071 | 35200 |
chr2 | 96728906 | 96728995 | E071 | 35695 |
chr2 | 96729061 | 96729220 | E071 | 35850 |
chr2 | 96729236 | 96729411 | E071 | 36025 |
chr2 | 96729435 | 96729526 | E071 | 36224 |
chr2 | 96729587 | 96729637 | E071 | 36376 |
chr2 | 96733907 | 96733979 | E071 | 40696 |
chr2 | 96737009 | 96737074 | E071 | 43798 |
chr2 | 96737317 | 96737373 | E071 | 44106 |
chr2 | 96737551 | 96737672 | E071 | 44340 |
chr2 | 96737791 | 96738086 | E071 | 44580 |
chr2 | 96738356 | 96738432 | E071 | 45145 |
chr2 | 96738531 | 96738829 | E071 | 45320 |
chr2 | 96675128 | 96675208 | E072 | -18003 |
chr2 | 96675397 | 96675458 | E072 | -17753 |
chr2 | 96678065 | 96678295 | E072 | -14916 |
chr2 | 96678403 | 96678483 | E072 | -14728 |
chr2 | 96678777 | 96678849 | E072 | -14362 |
chr2 | 96678878 | 96678918 | E072 | -14293 |
chr2 | 96679280 | 96679320 | E072 | -13891 |
chr2 | 96679389 | 96679489 | E072 | -13722 |
chr2 | 96685517 | 96685600 | E072 | -7611 |
chr2 | 96690219 | 96690311 | E072 | -2900 |
chr2 | 96690894 | 96691115 | E072 | -2096 |
chr2 | 96727541 | 96727591 | E072 | 34330 |
chr2 | 96727749 | 96727789 | E072 | 34538 |
chr2 | 96728300 | 96728350 | E072 | 35089 |
chr2 | 96728411 | 96728462 | E072 | 35200 |
chr2 | 96728906 | 96728995 | E072 | 35695 |
chr2 | 96729061 | 96729220 | E072 | 35850 |
chr2 | 96729236 | 96729411 | E072 | 36025 |
chr2 | 96729435 | 96729526 | E072 | 36224 |
chr2 | 96729587 | 96729637 | E072 | 36376 |
chr2 | 96730063 | 96730111 | E072 | 36852 |
chr2 | 96737009 | 96737074 | E072 | 43798 |
chr2 | 96737317 | 96737373 | E072 | 44106 |
chr2 | 96737551 | 96737672 | E072 | 44340 |
chr2 | 96737791 | 96738086 | E072 | 44580 |
chr2 | 96738356 | 96738432 | E072 | 45145 |
chr2 | 96678403 | 96678483 | E073 | -14728 |
chr2 | 96678777 | 96678849 | E073 | -14362 |
chr2 | 96678878 | 96678918 | E073 | -14293 |
chr2 | 96679280 | 96679320 | E073 | -13891 |
chr2 | 96679389 | 96679489 | E073 | -13722 |
chr2 | 96688409 | 96688794 | E073 | -4417 |
chr2 | 96727541 | 96727591 | E073 | 34330 |
chr2 | 96727749 | 96727789 | E073 | 34538 |
chr2 | 96729061 | 96729220 | E073 | 35850 |
chr2 | 96729236 | 96729411 | E073 | 36025 |
chr2 | 96729435 | 96729526 | E073 | 36224 |
chr2 | 96729587 | 96729637 | E073 | 36376 |
chr2 | 96730063 | 96730111 | E073 | 36852 |
chr2 | 96737009 | 96737074 | E073 | 43798 |
chr2 | 96737317 | 96737373 | E073 | 44106 |
chr2 | 96737551 | 96737672 | E073 | 44340 |
chr2 | 96737791 | 96738086 | E073 | 44580 |
chr2 | 96675128 | 96675208 | E074 | -18003 |
chr2 | 96675397 | 96675458 | E074 | -17753 |
chr2 | 96678065 | 96678295 | E074 | -14916 |
chr2 | 96678403 | 96678483 | E074 | -14728 |
chr2 | 96678777 | 96678849 | E074 | -14362 |
chr2 | 96678878 | 96678918 | E074 | -14293 |
chr2 | 96679280 | 96679320 | E074 | -13891 |
chr2 | 96679389 | 96679489 | E074 | -13722 |
chr2 | 96685517 | 96685600 | E074 | -7611 |
chr2 | 96686129 | 96686210 | E074 | -7001 |
chr2 | 96688409 | 96688794 | E074 | -4417 |
chr2 | 96733907 | 96733979 | E074 | 40696 |
chr2 | 96737009 | 96737074 | E074 | 43798 |
chr2 | 96737317 | 96737373 | E074 | 44106 |
chr2 | 96737551 | 96737672 | E074 | 44340 |
chr2 | 96737791 | 96738086 | E074 | 44580 |
chr2 | 96738356 | 96738432 | E074 | 45145 |
chr2 | 96675128 | 96675208 | E081 | -18003 |
chr2 | 96675397 | 96675458 | E081 | -17753 |
chr2 | 96733907 | 96733979 | E081 | 40696 |
chr2 | 96737317 | 96737373 | E081 | 44106 |
chr2 | 96737551 | 96737672 | E081 | 44340 |
chr2 | 96737791 | 96738086 | E081 | 44580 |
chr2 | 96738356 | 96738432 | E081 | 45145 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 96657249 | 96657597 | E067 | -35614 |
chr2 | 96657933 | 96658025 | E067 | -35186 |
chr2 | 96658286 | 96658971 | E067 | -34240 |
chr2 | 96675657 | 96675861 | E067 | -17350 |
chr2 | 96675925 | 96675965 | E067 | -17246 |
chr2 | 96676031 | 96676105 | E067 | -17106 |
chr2 | 96676109 | 96676359 | E067 | -16852 |
chr2 | 96676879 | 96677103 | E067 | -16108 |
chr2 | 96677188 | 96677299 | E067 | -15912 |
chr2 | 96656755 | 96656805 | E068 | -36406 |
chr2 | 96656846 | 96656896 | E068 | -36315 |
chr2 | 96656956 | 96656996 | E068 | -36215 |
chr2 | 96657249 | 96657597 | E068 | -35614 |
chr2 | 96657933 | 96658025 | E068 | -35186 |
chr2 | 96658286 | 96658971 | E068 | -34240 |
chr2 | 96675657 | 96675861 | E068 | -17350 |
chr2 | 96675925 | 96675965 | E068 | -17246 |
chr2 | 96676031 | 96676105 | E068 | -17106 |
chr2 | 96676109 | 96676359 | E068 | -16852 |
chr2 | 96676879 | 96677103 | E068 | -16108 |
chr2 | 96677188 | 96677299 | E068 | -15912 |
chr2 | 96656755 | 96656805 | E069 | -36406 |
chr2 | 96656846 | 96656896 | E069 | -36315 |
chr2 | 96656956 | 96656996 | E069 | -36215 |
chr2 | 96657249 | 96657597 | E069 | -35614 |
chr2 | 96657933 | 96658025 | E069 | -35186 |
chr2 | 96658286 | 96658971 | E069 | -34240 |
chr2 | 96675657 | 96675861 | E069 | -17350 |
chr2 | 96675925 | 96675965 | E069 | -17246 |
chr2 | 96676031 | 96676105 | E069 | -17106 |
chr2 | 96676109 | 96676359 | E069 | -16852 |
chr2 | 96676879 | 96677103 | E069 | -16108 |
chr2 | 96677188 | 96677299 | E069 | -15912 |
chr2 | 96656755 | 96656805 | E070 | -36406 |
chr2 | 96656846 | 96656896 | E070 | -36315 |
chr2 | 96656956 | 96656996 | E070 | -36215 |
chr2 | 96657249 | 96657597 | E070 | -35614 |
chr2 | 96657933 | 96658025 | E070 | -35186 |
chr2 | 96658286 | 96658971 | E070 | -34240 |
chr2 | 96675657 | 96675861 | E070 | -17350 |
chr2 | 96675925 | 96675965 | E070 | -17246 |
chr2 | 96676031 | 96676105 | E070 | -17106 |
chr2 | 96676109 | 96676359 | E070 | -16852 |
chr2 | 96676879 | 96677103 | E070 | -16108 |
chr2 | 96657249 | 96657597 | E071 | -35614 |
chr2 | 96657933 | 96658025 | E071 | -35186 |
chr2 | 96658286 | 96658971 | E071 | -34240 |
chr2 | 96675657 | 96675861 | E071 | -17350 |
chr2 | 96675925 | 96675965 | E071 | -17246 |
chr2 | 96676031 | 96676105 | E071 | -17106 |
chr2 | 96676109 | 96676359 | E071 | -16852 |
chr2 | 96676879 | 96677103 | E071 | -16108 |
chr2 | 96677188 | 96677299 | E071 | -15912 |
chr2 | 96657249 | 96657597 | E072 | -35614 |
chr2 | 96657933 | 96658025 | E072 | -35186 |
chr2 | 96658286 | 96658971 | E072 | -34240 |
chr2 | 96675657 | 96675861 | E072 | -17350 |
chr2 | 96675925 | 96675965 | E072 | -17246 |
chr2 | 96676031 | 96676105 | E072 | -17106 |
chr2 | 96676109 | 96676359 | E072 | -16852 |
chr2 | 96676879 | 96677103 | E072 | -16108 |
chr2 | 96677188 | 96677299 | E072 | -15912 |
chr2 | 96657249 | 96657597 | E073 | -35614 |
chr2 | 96657933 | 96658025 | E073 | -35186 |
chr2 | 96658286 | 96658971 | E073 | -34240 |
chr2 | 96675657 | 96675861 | E073 | -17350 |
chr2 | 96675925 | 96675965 | E073 | -17246 |
chr2 | 96676031 | 96676105 | E073 | -17106 |
chr2 | 96676109 | 96676359 | E073 | -16852 |
chr2 | 96676879 | 96677103 | E073 | -16108 |
chr2 | 96677188 | 96677299 | E073 | -15912 |
chr2 | 96657249 | 96657597 | E074 | -35614 |
chr2 | 96657933 | 96658025 | E074 | -35186 |
chr2 | 96658286 | 96658971 | E074 | -34240 |
chr2 | 96675657 | 96675861 | E074 | -17350 |
chr2 | 96675925 | 96675965 | E074 | -17246 |
chr2 | 96676031 | 96676105 | E074 | -17106 |
chr2 | 96676109 | 96676359 | E074 | -16852 |
chr2 | 96676879 | 96677103 | E074 | -16108 |
chr2 | 96677188 | 96677299 | E074 | -15912 |
chr2 | 96657249 | 96657597 | E081 | -35614 |
chr2 | 96675657 | 96675861 | E081 | -17350 |
chr2 | 96675925 | 96675965 | E081 | -17246 |
chr2 | 96656755 | 96656805 | E082 | -36406 |
chr2 | 96656846 | 96656896 | E082 | -36315 |
chr2 | 96656956 | 96656996 | E082 | -36215 |
chr2 | 96657249 | 96657597 | E082 | -35614 |
chr2 | 96657933 | 96658025 | E082 | -35186 |
chr2 | 96658286 | 96658971 | E082 | -34240 |
chr2 | 96675657 | 96675861 | E082 | -17350 |
chr2 | 96675925 | 96675965 | E082 | -17246 |
chr2 | 96676031 | 96676105 | E082 | -17106 |
chr2 | 96676109 | 96676359 | E082 | -16852 |