Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 11 | NC_000011.10:g.130241833G>C |
GRCh37.p13 chr 11 | NC_000011.9:g.130111728G>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ZBTB44 transcript variant 1 | NM_001301098.1:c. | N/A | Intron Variant |
ZBTB44 transcript variant 2 | NM_001301099.1:c. | N/A | Intron Variant |
ZBTB44 transcript variant 3 | NM_014155.4:c. | N/A | Intron Variant |
ZBTB44 transcript variant X1 | XM_005271521.4:c. | N/A | Intron Variant |
ZBTB44 transcript variant X4 | XM_005271522.4:c. | N/A | Intron Variant |
ZBTB44 transcript variant X3 | XM_006718825.3:c. | N/A | Intron Variant |
ZBTB44 transcript variant X9 | XM_006718826.3:c. | N/A | Intron Variant |
ZBTB44 transcript variant X5 | XM_011542789.2:c. | N/A | Intron Variant |
ZBTB44 transcript variant X6 | XM_017017623.1:c. | N/A | Intron Variant |
ZBTB44 transcript variant X10 | XM_017017624.1:c. | N/A | Intron Variant |
ZBTB44 transcript variant X2 | XR_246421.4:n. | N/A | Intron Variant |
ZBTB44 transcript variant X8 | XR_246423.4:n. | N/A | Intron Variant |
ZBTB44 transcript variant X7 | XR_947826.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.863 | C=0.137 |
1000Genomes | American | Sub | 694 | G=0.980 | C=0.020 |
1000Genomes | East Asian | Sub | 1008 | G=1.000 | C=0.000 |
1000Genomes | Europe | Sub | 1006 | G=0.991 | C=0.009 |
1000Genomes | Global | Study-wide | 5008 | G=0.959 | C=0.041 |
1000Genomes | South Asian | Sub | 978 | G=1.000 | C=0.000 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.987 | C=0.013 |
The Genome Aggregation Database | African | Sub | 8724 | G=0.889 | C=0.111 |
The Genome Aggregation Database | American | Sub | 838 | G=0.970 | C=0.030 |
The Genome Aggregation Database | East Asian | Sub | 1620 | G=1.000 | C=0.000 |
The Genome Aggregation Database | Europe | Sub | 18474 | G=0.991 | C=0.008 |
The Genome Aggregation Database | Global | Study-wide | 29958 | G=0.961 | C=0.038 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.970 | C=0.030 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.941 | C=0.058 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.986 | C=0.014 |
PMID | Title | Author | Journal |
---|---|---|---|
19268276 | Genome-wide association study of smoking initiation and current smoking. | Vink JM | Am J Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs7933236 | 0.000671 | nicotine smoking | 19268276 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr11:130111728 | ZBTB44 | ENSG00000196323.7 | G>C | 1.6949e-3 | -72853 | Cortex |
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 ) |
---|---|---|---|---|
chr11 | 130116649 | 130116995 | E067 | 4921 |
chr11 | 130117228 | 130117278 | E067 | 5500 |
chr11 | 130117531 | 130117597 | E067 | 5803 |
chr11 | 130119609 | 130119708 | E067 | 7881 |
chr11 | 130130642 | 130130962 | E067 | 18914 |
chr11 | 130131252 | 130131811 | E067 | 19524 |
chr11 | 130135927 | 130136322 | E067 | 24199 |
chr11 | 130136362 | 130136412 | E067 | 24634 |
chr11 | 130136608 | 130136668 | E067 | 24880 |
chr11 | 130150262 | 130150314 | E067 | 38534 |
chr11 | 130156500 | 130156667 | E067 | 44772 |
chr11 | 130156672 | 130156725 | E067 | 44944 |
chr11 | 130116299 | 130116506 | E068 | 4571 |
chr11 | 130116649 | 130116995 | E068 | 4921 |
chr11 | 130117228 | 130117278 | E068 | 5500 |
chr11 | 130117531 | 130117597 | E068 | 5803 |
chr11 | 130135927 | 130136322 | E068 | 24199 |
chr11 | 130136362 | 130136412 | E068 | 24634 |
chr11 | 130140068 | 130140165 | E068 | 28340 |
chr11 | 130149819 | 130149944 | E068 | 38091 |
chr11 | 130150262 | 130150314 | E068 | 38534 |
chr11 | 130156500 | 130156667 | E068 | 44772 |
chr11 | 130156672 | 130156725 | E068 | 44944 |
chr11 | 130116649 | 130116995 | E069 | 4921 |
chr11 | 130117228 | 130117278 | E069 | 5500 |
chr11 | 130117531 | 130117597 | E069 | 5803 |
chr11 | 130133025 | 130133075 | E069 | 21297 |
chr11 | 130133283 | 130133619 | E069 | 21555 |
chr11 | 130135927 | 130136322 | E069 | 24199 |
chr11 | 130136362 | 130136412 | E069 | 24634 |
chr11 | 130082692 | 130083894 | E070 | -27834 |
chr11 | 130156500 | 130156667 | E070 | 44772 |
chr11 | 130156672 | 130156725 | E070 | 44944 |
chr11 | 130082692 | 130083894 | E071 | -27834 |
chr11 | 130109240 | 130109435 | E071 | -2293 |
chr11 | 130113190 | 130113385 | E071 | 1462 |
chr11 | 130113807 | 130113994 | E071 | 2079 |
chr11 | 130116299 | 130116506 | E071 | 4571 |
chr11 | 130116649 | 130116995 | E071 | 4921 |
chr11 | 130117228 | 130117278 | E071 | 5500 |
chr11 | 130117531 | 130117597 | E071 | 5803 |
chr11 | 130119609 | 130119708 | E071 | 7881 |
chr11 | 130126077 | 130126131 | E071 | 14349 |
chr11 | 130130642 | 130130962 | E071 | 18914 |
chr11 | 130131252 | 130131811 | E071 | 19524 |
chr11 | 130135927 | 130136322 | E071 | 24199 |
chr11 | 130136362 | 130136412 | E071 | 24634 |
chr11 | 130149819 | 130149944 | E071 | 38091 |
chr11 | 130150262 | 130150314 | E071 | 38534 |
chr11 | 130151854 | 130151904 | E071 | 40126 |
chr11 | 130155823 | 130155873 | E071 | 44095 |
chr11 | 130156500 | 130156667 | E071 | 44772 |
chr11 | 130156672 | 130156725 | E071 | 44944 |
chr11 | 130116299 | 130116506 | E072 | 4571 |
chr11 | 130116649 | 130116995 | E072 | 4921 |
chr11 | 130117228 | 130117278 | E072 | 5500 |
chr11 | 130117531 | 130117597 | E072 | 5803 |
chr11 | 130133283 | 130133619 | E072 | 21555 |
chr11 | 130133682 | 130133799 | E072 | 21954 |
chr11 | 130135927 | 130136322 | E072 | 24199 |
chr11 | 130142853 | 130142935 | E072 | 31125 |
chr11 | 130089944 | 130090006 | E073 | -21722 |
chr11 | 130090119 | 130090163 | E073 | -21565 |
chr11 | 130117228 | 130117278 | E073 | 5500 |
chr11 | 130109240 | 130109435 | E074 | -2293 |
chr11 | 130115430 | 130115537 | E074 | 3702 |
chr11 | 130115629 | 130116021 | E074 | 3901 |
chr11 | 130116299 | 130116506 | E074 | 4571 |
chr11 | 130116649 | 130116995 | E074 | 4921 |
chr11 | 130117228 | 130117278 | E074 | 5500 |
chr11 | 130117531 | 130117597 | E074 | 5803 |
chr11 | 130135927 | 130136322 | E074 | 24199 |
chr11 | 130136362 | 130136412 | E074 | 24634 |
chr11 | 130142853 | 130142935 | E074 | 31125 |
chr11 | 130150262 | 130150314 | E074 | 38534 |
chr11 | 130078549 | 130078620 | E081 | -33108 |
chr11 | 130082692 | 130083894 | E081 | -27834 |
chr11 | 130084079 | 130084139 | E081 | -27589 |
chr11 | 130084175 | 130084229 | E081 | -27499 |
chr11 | 130115629 | 130116021 | E081 | 3901 |
chr11 | 130116299 | 130116506 | E081 | 4571 |
chr11 | 130117228 | 130117278 | E081 | 5500 |
chr11 | 130117531 | 130117597 | E081 | 5803 |
chr11 | 130130642 | 130130962 | E081 | 18914 |
chr11 | 130131252 | 130131811 | E081 | 19524 |
chr11 | 130131902 | 130132035 | E081 | 20174 |
chr11 | 130132933 | 130132983 | E081 | 21205 |
chr11 | 130133025 | 130133075 | E081 | 21297 |
chr11 | 130133283 | 130133619 | E081 | 21555 |
chr11 | 130131252 | 130131811 | E082 | 19524 |
chr11 | 130132933 | 130132983 | E082 | 21205 |
chr11 | 130133025 | 130133075 | E082 | 21297 |
chr11 | 130133283 | 130133619 | E082 | 21555 |
chr11 | 130133682 | 130133799 | E082 | 21954 |
chr11 | 130133851 | 130133946 | E082 | 22123 |
chr11 | 130133987 | 130134051 | E082 | 22259 |