rs4141130

Homo sapiens
T>C
CACNA1C : Intron Variant
DCP1B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0321 (9608/29912,GnomAD)
C=0306 (8937/29118,TOPMED)
C=0333 (1667/5008,1000G)
C=0308 (1186/3854,ALSPAC)
C=0319 (1182/3708,TWINSUK)
chr12:1988550 (GRCh38.p7) (12p13.33)
ND
GWASdb2
1   publication(s)
See rs on genome
130 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.1988550T>C
GRCh37.p13 chr 12NC_000012.11:g.2097716T>C
CACNA1C RefSeqGene LRG_334

Gene: DCP1B, decapping mRNA 1B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DCP1B transcript variant 1NM_152640.4:c.N/AIntron Variant
DCP1B transcript variant 2NM_001319292.1:c.N/AGenic Downstream Transcript Variant
DCP1B transcript variant 3NR_135060.1:n.N/AIntron Variant
DCP1B transcript variant X1XM_011520927.2:c.N/AIntron Variant

Gene: CACNA1C, calcium voltage-gated channel subunit alpha1 C(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CACNA1C transcript variant 18NM_000719.6:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 2NM_001129827.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 3NM_001129829.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 4NM_001129830.2:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 5NM_001129831.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 6NM_001129832.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 7NM_001129833.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 8NM_001129834.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 9NM_001129835.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 10NM_001129836.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 11NM_001129837.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 12NM_001129838.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 13NM_001129839.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 14NM_001129840.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 15NM_001129841.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 16NM_001129842.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 17NM_001129843.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 19NM_001129844.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 20NM_001129846.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 21NM_001167623.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 22NM_001167624.2:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 23NM_001167625.1:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant 1NM_199460.3:c.N/AGenic Upstream Transcript Variant
CACNA1C transcript variant X30XM_006719017.2:c.N/AIntron Variant
CACNA1C transcript variant X28XM_011521020.2:c.N/AIntron Variant
CACNA1C transcript variant X1XM_017019926.1:c.N/AIntron Variant
CACNA1C transcript variant X2XM_017019927.1:c.N/AIntron Variant
CACNA1C transcript variant X3XM_017019928.1:c.N/AIntron Variant
CACNA1C transcript variant X4XM_017019929.1:c.N/AIntron Variant
CACNA1C transcript variant X5XM_017019930.1:c.N/AIntron Variant
CACNA1C transcript variant X6XM_017019931.1:c.N/AIntron Variant
CACNA1C transcript variant X7XM_017019932.1:c.N/AIntron Variant
CACNA1C transcript variant X8XM_017019933.1:c.N/AIntron Variant
CACNA1C transcript variant X9XM_017019934.1:c.N/AIntron Variant
CACNA1C transcript variant X10XM_017019935.1:c.N/AIntron Variant
CACNA1C transcript variant X11XM_017019936.1:c.N/AIntron Variant
CACNA1C transcript variant X12XM_017019937.1:c.N/AIntron Variant
CACNA1C transcript variant X13XM_017019938.1:c.N/AIntron Variant
CACNA1C transcript variant X14XM_017019939.1:c.N/AIntron Variant
CACNA1C transcript variant X15XM_017019940.1:c.N/AIntron Variant
CACNA1C transcript variant X16XM_017019941.1:c.N/AIntron Variant
CACNA1C transcript variant X17XM_017019942.1:c.N/AIntron Variant
CACNA1C transcript variant X18XM_017019943.1:c.N/AIntron Variant
CACNA1C transcript variant X19XM_017019944.1:c.N/AIntron Variant
CACNA1C transcript variant X20XM_017019945.1:c.N/AIntron Variant
CACNA1C transcript variant X21XM_017019946.1:c.N/AIntron Variant
CACNA1C transcript variant X22XM_017019947.1:c.N/AIntron Variant
CACNA1C transcript variant X23XM_017019948.1:c.N/AIntron Variant
CACNA1C transcript variant X24XM_017019949.1:c.N/AIntron Variant
CACNA1C transcript variant X25XM_017019950.1:c.N/AIntron Variant
CACNA1C transcript variant X26XM_017019951.1:c.N/AIntron Variant
CACNA1C transcript variant X27XM_017019952.1:c.N/AIntron Variant
CACNA1C transcript variant X29XM_017019953.1:c.N/AIntron Variant
CACNA1C transcript variant X31XM_017019954.1:c.N/AIntron Variant
CACNA1C transcript variant X32XM_017019955.1:c.N/AIntron Variant
CACNA1C transcript variant X33XM_011521023.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.704C=0.296
1000GenomesAmericanSub694T=0.770C=0.230
1000GenomesEast AsianSub1008T=0.453C=0.547
1000GenomesEuropeSub1006T=0.661C=0.339
1000GenomesGlobalStudy-wide5008T=0.667C=0.333
1000GenomesSouth AsianSub978T=0.770C=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.692C=0.308
The Genome Aggregation DatabaseAfricanSub8694T=0.690C=0.310
The Genome Aggregation DatabaseAmericanSub836T=0.790C=0.210
The Genome Aggregation DatabaseEast AsianSub1608T=0.463C=0.537
The Genome Aggregation DatabaseEuropeSub18472T=0.687C=0.312
The Genome Aggregation DatabaseGlobalStudy-wide29912T=0.678C=0.321
The Genome Aggregation DatabaseOtherSub302T=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.693C=0.306
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.681C=0.319
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
rs41411301.51E-05nicotine smoking19268276

eQTL of rs4141130 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 rs4141130 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 )
chr1220481392048183E067-49533
chr1220484932049633E067-48083
chr1220814592082545E067-15171
chr1221121102112234E06714394
chr1221222932122535E06724577
chr1221226832123687E06724967
chr1221237672123865E06726051
chr1221238742123975E06726158
chr1221242492124318E06726533
chr1221414952141545E06743779
chr1221434302143660E06745714
chr1221436802143734E06745964
chr1220484932049633E068-48083
chr1221113202111692E06813604
chr1221121102112234E06814394
chr1221222932122535E06824577
chr1221226832123687E06824967
chr1221237672123865E06826051
chr1221238742123975E06826158
chr1221268712127434E06829155
chr1221416042141738E06843888
chr1221418232142122E06844107
chr1221421672142293E06844451
chr1221449242145131E06847208
chr1221451572145207E06847441
chr1221452222145280E06847506
chr1221452912145331E06847575
chr1221454292145479E06847713
chr1221455422145636E06847826
chr1220481392048183E069-49533
chr1220484932049633E069-48083
chr1220814592082545E069-15171
chr1221113202111692E06913604
chr1221121102112234E06914394
chr1221214802121619E06923764
chr1221216932121784E06923977
chr1221218382121952E06924122
chr1221222932122535E06924577
chr1221226832123687E06924967
chr1221237672123865E06926051
chr1221410992141149E06943383
chr1221411732141438E06943457
chr1221414952141545E06943779
chr1221416042141738E06943888
chr1221423362142429E06944620
chr1221451572145207E06947441
chr1221452222145280E06947506
chr1221452912145331E06947575
chr1221454292145479E06947713
chr1221455422145636E06947826
chr1220481392048183E070-49533
chr1220484932049633E070-48083
chr1221121102112234E07014394
chr1220481392048183E071-49533
chr1220484932049633E071-48083
chr1220720142072066E071-25650
chr1220814592082545E071-15171
chr1221121102112234E07114394
chr1221226832123687E07124967
chr1221237672123865E07126051
chr1221238742123975E07126158
chr1221263662126439E07128650
chr1221264842126536E07128768
chr1221265782126618E07128862
chr1221267162126808E07129000
chr1221268712127434E07129155
chr1221416042141738E07143888
chr1221418232142122E07144107
chr1221421672142293E07144451
chr1221451572145207E07147441
chr1220484932049633E072-48083
chr1221108042111118E07213088
chr1221113202111692E07213604
chr1221121102112234E07214394
chr1221237672123865E07226051
chr1221238742123975E07226158
chr1221404712140682E07242755
chr1221407982140881E07243082
chr1221410992141149E07243383
chr1221411732141438E07243457
chr1221414952141545E07243779
chr1221449242145131E07247208
chr1221451572145207E07247441
chr1221452222145280E07247506
chr1221452912145331E07247575
chr1221454292145479E07247713
chr1221455422145636E07247826
chr1220484932049633E073-48083
chr1221113202111692E07313604
chr1221454292145479E07347713
chr1221455422145636E07347826
chr1221459892146029E07348273
chr1221461422146192E07348426
chr1220484932049633E074-48083
chr1220814592082545E074-15171
chr1221108042111118E07413088
chr1221113202111692E07413604
chr1221121102112234E07414394
chr1221206022120874E07422886
chr1221209042121078E07423188
chr1221212942121344E07423578
chr1221214802121619E07423764
chr1221216932121784E07423977
chr1221218382121952E07424122
chr1221222932122535E07424577
chr1221226832123687E07424967
chr1221237672123865E07426051
chr1221238742123975E07426158
chr1221268712127434E07429155
chr1221274672127529E07429751
chr1221275492127692E07429833
chr1221277022127807E07429986
chr1221416042141738E07443888
chr1221418232142122E07444107
chr1221421672142293E07444451
chr1221423362142429E07444620
chr1221451572145207E07447441
chr1221452222145280E07447506
chr1221452912145331E07447575
chr1221454292145479E07447713
chr1221455422145636E07447826
chr1220484932049633E081-48083
chr1220814592082545E081-15171
chr1221121102112234E08114394
chr1220481392048183E082-49533
chr1220656552065705E082-32011
chr1221449242145131E08247208
chr1221451572145207E08247441
chr1221452222145280E08247506
chr1221452912145331E08247575










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1221125702112626E06714854
chr1221127952114115E06715079
chr1221125702112626E06814854
chr1221127952114115E06815079
chr1221125702112626E06914854
chr1221127952114115E06915079
chr1221125702112626E07014854
chr1221127952114115E07015079
chr1221125702112626E07114854
chr1221127952114115E07115079
chr1221125702112626E07214854
chr1221127952114115E07215079
chr1221125702112626E07314854
chr1221127952114115E07315079
chr1221125702112626E07414854
chr1221127952114115E07415079
chr1221125702112626E08114854
chr1221127952114115E08115079
chr1221125702112626E08214854
chr1221127952114115E08215079