rs7809631

Homo sapiens
G>A / G>T
CALN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0309 (9180/29622,GnomAD)
T=0336 (9787/29118,TOPMED)
T=0307 (1539/5008,1000G)
T=0251 (968/3854,ALSPAC)
T=0235 (870/3708,TWINSUK)
chr7:72443666 (GRCh38.p7) (7q11.22)
ND
GWASdb2
1   publication(s)
See rs on genome
86 Enhancers around
66 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.72443666G>A
GRCh38.p7 chr 7NC_000007.14:g.72443666G>T
GRCh37.p13 chr 7NC_000007.13:g.71908651G>A
GRCh37.p13 chr 7NC_000007.13:g.71908651G>T

Gene: CALN1, calneuron 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CALN1 transcript variant 2NM_001017440.2:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant 1NM_031468.3:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant X5XM_011516595.1:c.N/AIntron Variant
CALN1 transcript variant X1XM_017012675.1:c.N/AIntron Variant
CALN1 transcript variant X2XM_017012676.1:c.N/AIntron Variant
CALN1 transcript variant X4XM_017012677.1:c.N/AIntron Variant
CALN1 transcript variant X7XM_017012678.1:c.N/AIntron Variant
CALN1 transcript variant X9XM_017012683.1:c.N/AIntron Variant
CALN1 transcript variant X3XM_011516594.2:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant X6XM_011516596.2:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant X8XM_011516597.2:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant X14XM_011516599.1:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant X10XM_017012679.1:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant X11XM_017012680.1:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant X12XM_017012681.1:c.N/AGenic Upstream Transcript Variant
CALN1 transcript variant X13XM_017012682.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.502T=0.498
1000GenomesAmericanSub694G=0.810T=0.190
1000GenomesEast AsianSub1008G=0.667T=0.333
1000GenomesEuropeSub1006G=0.790T=0.210
1000GenomesGlobalStudy-wide5008G=0.693T=0.307
1000GenomesSouth AsianSub978G=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.749T=0.251
The Genome Aggregation DatabaseAfricanSub8580G=0.547A=0.000
The Genome Aggregation DatabaseAmericanSub836G=0.790A=0.00,
The Genome Aggregation DatabaseEast AsianSub1602G=0.641A=0.000
The Genome Aggregation DatabaseEuropeSub18304G=0.755A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29622G=0.690A=0.000
The Genome Aggregation DatabaseOtherSub300G=0.800A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.663T=0.336
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.765T=0.235
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs78096310.00085nicotine smoking19268276

eQTL of rs7809631 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs7809631 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr763870956387210E06717165
chr763872306387416E06717300
chr764160416416125E06746111
chr764162006416254E06746270
chr764163546416395E06746424
chr764169366416994E06747006
chr764171256417268E06747195
chr764173596417444E06747429
chr764175706417711E06747640
chr764177406417821E06747810
chr764178516417901E06747921
chr764195106419865E06749580
chr764072666407381E06837336
chr764074246407923E06837494
chr764173596417444E06847429
chr764175706417711E06847640
chr764177406417821E06847810
chr764195106419865E06849580
chr763858376385936E06915907
chr763860746386172E06916144
chr763862196386728E06916289
chr763870956387210E06917165
chr763872306387416E06917300
chr764160416416125E06946111
chr764162006416254E06946270
chr764163546416395E06946424
chr764171256417268E06947195
chr764173596417444E06947429
chr764175706417711E06947640
chr764177406417821E06947810
chr763862196386728E07016289
chr763870956387210E07017165
chr763872306387416E07017300
chr764162006416254E07046270
chr764163546416395E07046424
chr764171256417268E07047195
chr764173596417444E07047429
chr764175706417711E07047640
chr764177406417821E07047810
chr764169366416994E07147006
chr764171256417268E07147195
chr764173596417444E07147429
chr764175706417711E07147640
chr764195106419865E07149580
chr764160416416125E07246111
chr764162006416254E07246270
chr764163546416395E07246424
chr764173596417444E07247429
chr764175706417711E07247640
chr763728526373038E0732922
chr763733416373422E0733411
chr764072666407381E07337336
chr764160416416125E07346111
chr764162006416254E07346270
chr764163546416395E07346424
chr764173596417444E07347429
chr764175706417711E07347640
chr764177406417821E07347810
chr764178516417901E07347921
chr764180826418467E07348152
chr764195106419865E07349580
chr763624996363049E074-6881
chr764160416416125E07446111
chr764162006416254E07446270
chr764163546416395E07446424
chr764169366416994E07447006
chr764173596417444E07447429
chr764175706417711E07447640
chr764177406417821E07447810
chr764195106419865E07449580
chr763624996363049E081-6881
chr763862196386728E08116289
chr763870956387210E08117165
chr763872306387416E08117300
chr763894276390699E08119497
chr764160416416125E08146111
chr764162006416254E08146270
chr764163546416395E08146424
chr764169366416994E08147006
chr764171256417268E08147195
chr763862196386728E08216289
chr763911816391235E08221251
chr764169366416994E08247006
chr764171256417268E08247195
chr764173596417444E08247429
chr764175706417711E08247640










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr763878106387876E06717880
chr763879026388905E06717972
chr763889616389030E06719031
chr764135106413787E06743580
chr764138276414219E06743897
chr764142396414295E06744309
chr764143396415805E06744409
chr763878106387876E06817880
chr763879026388905E06817972
chr763889616389030E06819031
chr764135106413787E06843580
chr764138276414219E06843897
chr764142396414295E06844309
chr764143396415805E06844409
chr763878106387876E06917880
chr763879026388905E06917972
chr763889616389030E06919031
chr764135106413787E06943580
chr764138276414219E06943897
chr764142396414295E06944309
chr764143396415805E06944409
chr763878106387876E07017880
chr763879026388905E07017972
chr764135106413787E07043580
chr764138276414219E07043897
chr764142396414295E07044309
chr764143396415805E07044409
chr764159366415984E07046006
chr763878106387876E07117880
chr763879026388905E07117972
chr763889616389030E07119031
chr764135106413787E07143580
chr764138276414219E07143897
chr764142396414295E07144309
chr764143396415805E07144409
chr764159366415984E07146006
chr763878106387876E07217880
chr763879026388905E07217972
chr763889616389030E07219031
chr764135106413787E07243580
chr764138276414219E07243897
chr764142396414295E07244309
chr764143396415805E07244409
chr763878106387876E07317880
chr763879026388905E07317972
chr763889616389030E07319031
chr764135106413787E07343580
chr764138276414219E07343897
chr764142396414295E07344309
chr764143396415805E07344409
chr763878106387876E07417880
chr763879026388905E07417972
chr764135106413787E07443580
chr764138276414219E07443897
chr764142396414295E07444309
chr764143396415805E07444409
chr763878106387876E08117880
chr764143396415805E08144409
chr763878106387876E08217880
chr763879026388905E08217972
chr763889616389030E08219031
chr764135106413787E08243580
chr764138276414219E08243897
chr764142396414295E08244309
chr764143396415805E08244409
chr764159366415984E08246006