rs7218135

Homo sapiens
G>T
ASIC2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0214 (6409/29936,GnomAD)
T=0262 (7636/29118,TOPMED)
T=0309 (1546/5008,1000G)
T=0087 (337/3854,ALSPAC)
T=0084 (313/3708,TWINSUK)
chr17:33166325 (GRCh38.p7) (17q11.2)
ND
GWASdb2
1   publication(s)
See rs on genome
54 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.33166325G>T
GRCh37.p13 chr 17NC_000017.10:g.31493343G>T
ASIC2 RefSeqGeneNG_029763.1:g.995483C>A

Gene: ASIC2, acid sensing ion channel subunit 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ASIC2 transcript variant MDEG1NM_001094.4:c.N/AIntron Variant
ASIC2 transcript variant MDEG2NM_183377.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.526T=0.474
1000GenomesAmericanSub694G=0.680T=0.320
1000GenomesEast AsianSub1008G=0.667T=0.333
1000GenomesEuropeSub1006G=0.901T=0.099
1000GenomesGlobalStudy-wide5008G=0.691T=0.309
1000GenomesSouth AsianSub978G=0.730T=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.913T=0.087
The Genome Aggregation DatabaseAfricanSub8708G=0.552T=0.448
The Genome Aggregation DatabaseAmericanSub838G=0.680T=0.320
The Genome Aggregation DatabaseEast AsianSub1602G=0.692T=0.308
The Genome Aggregation DatabaseEuropeSub18486G=0.907T=0.092
The Genome Aggregation DatabaseGlobalStudy-wide29936G=0.785T=0.214
The Genome Aggregation DatabaseOtherSub302G=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.737T=0.262
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.916T=0.084
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
rs72181350.000636nicotine smoking19268276

eQTL of rs7218135 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 rs7218135 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 )
chr173146670431466802E070-26541
chr173146681231466862E070-26481
chr173146709331467143E070-26200
chr173146738731467591E070-25752
chr173146762731467714E070-25629
chr173146785031468211E070-25132
chr173152719931527487E07033856
chr173152750731527685E07034164
chr173152770931527877E07034366
chr173152794831528063E07034605
chr173152817631528226E07034833
chr173152828231528447E07034939
chr173152844931528592E07035106
chr173152864331528697E07035300
chr173152913831529354E07035795
chr173144553731445638E081-47705
chr173144569731445764E081-47579
chr173144583731445966E081-47377
chr173144693331447735E081-45608
chr173144831831448596E081-44747
chr173144886831449028E081-44315
chr173144914131449197E081-44146
chr173146571531465889E081-27454
chr173146670431466802E081-26541
chr173150460031504673E08111257
chr173150473731504787E08111394
chr173150486931504919E08111526
chr173150508731505137E08111744
chr173150525931505313E08111916
chr173150535031505452E08112007
chr173150578131506532E08112438
chr173150668231506722E08113339
chr173150675231506802E08113409
chr173153683931536908E08143496
chr173153728131537345E08143938
chr173153739031537648E08144047
chr173153774431537794E08144401
chr173153796131538021E08144618
chr173153823731538289E08144894
chr173154181631541888E08148473
chr173154191131542492E08148568
chr173144553731445638E082-47705
chr173144569731445764E082-47579
chr173144583731445966E082-47377
chr173144693331447735E082-45608
chr173146571531465889E082-27454
chr173146762731467714E082-25629
chr173146785031468211E082-25132
chr173146845631468545E082-24798
chr173150578131506532E08212438
chr173152553931526575E08232196
chr173153013431530195E08236791
chr173153728131537345E08243938
chr173153739031537648E08244047