rs2457861

Homo sapiens
G>A
FRMD4A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0468 (13883/29666,GnomAD)
A=0495 (14416/29118,TOPMED)
G==0455 (2279/5008,1000G)
chr10:13964391 (GRCh38.p7) (10p13)
ND
GWASdb2
1   publication(s)
See rs on genome
242 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.13964391G>A
GRCh37.p13 chr 10NC_000010.10:g.14006391G>A

Gene: FRMD4A, FERM domain containing 4A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FRMD4A transcript variant 2NM_001318336.1:c.N/AIntron Variant
FRMD4A transcript variant 3NM_001318337.1:c.N/AIntron Variant
FRMD4A transcript variant 1NM_018027.4:c.N/AIntron Variant
FRMD4A transcript variant 4NM_001318338.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant 5NR_134578.1:n.N/AGenic Downstream Transcript Variant
FRMD4A transcript variant X9XM_005252489.2:c.N/AIntron Variant
FRMD4A transcript variant X10XM_005252490.2:c.N/AIntron Variant
FRMD4A transcript variant X1XM_006717457.2:c.N/AIntron Variant
FRMD4A transcript variant X2XM_006717458.3:c.N/AIntron Variant
FRMD4A transcript variant X3XM_006717459.2:c.N/AIntron Variant
FRMD4A transcript variant X4XM_006717460.2:c.N/AIntron Variant
FRMD4A transcript variant X5XM_011519539.1:c.N/AIntron Variant
FRMD4A transcript variant X6XM_011519540.1:c.N/AIntron Variant
FRMD4A transcript variant X7XM_011519541.1:c.N/AIntron Variant
FRMD4A transcript variant X11XM_011519543.2:c.N/AIntron Variant
FRMD4A transcript variant X8XM_017016393.1:c.N/AIntron Variant
FRMD4A transcript variant X12XM_017016394.1:c.N/AIntron Variant
FRMD4A transcript variant X13XM_017016395.1:c.N/AIntron Variant
FRMD4A transcript variant X16XM_005252495.4:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X15XM_006717464.1:c.N/AGenic Upstream Transcript Variant
FRMD4A transcript variant X14XM_017016396.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.372A=0.628
1000GenomesAmericanSub694G=0.420A=0.580
1000GenomesEast AsianSub1008G=0.457A=0.543
1000GenomesEuropeSub1006G=0.595A=0.405
1000GenomesGlobalStudy-wide5008G=0.455A=0.545
1000GenomesSouth AsianSub978G=0.450A=0.550
The Genome Aggregation DatabaseAfricanSub8620G=0.413A=0.587
The Genome Aggregation DatabaseAmericanSub834G=0.370A=0.630
The Genome Aggregation DatabaseEast AsianSub1602G=0.424A=0.576
The Genome Aggregation DatabaseEuropeSub18308G=0.604A=0.395
The Genome Aggregation DatabaseGlobalStudy-wide29666G=0.532A=0.468
The Genome Aggregation DatabaseOtherSub302G=0.570A=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.504A=0.495
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
rs24578610.000364nicotine smoking19268276

eQTL of rs2457861 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 rs2457861 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 )
chr101395669713956743E067-49648
chr101395701213957072E067-49319
chr101395729113957355E067-49036
chr101395775113958109E067-48282
chr101395838013958605E067-47786
chr101395871313958775E067-47616
chr101395902013959133E067-47258
chr101395918113959241E067-47150
chr101398201713982076E067-24315
chr101398758313987723E067-18668
chr101398773913988329E067-18062
chr101402482814024904E06718437
chr101403202814033834E06725637
chr101404919514049414E06742804
chr101404944014049531E06743049
chr101395669713956743E068-49648
chr101395701213957072E068-49319
chr101395838013958605E068-47786
chr101395871313958775E068-47616
chr101395902013959133E068-47258
chr101395918113959241E068-47150
chr101395981913960060E068-46331
chr101396018813960238E068-46153
chr101396026713960355E068-46036
chr101397897413979108E068-27283
chr101397926913979319E068-27072
chr101398726913987334E068-19057
chr101398738813987451E068-18940
chr101398747113987557E068-18834
chr101398758313987723E068-18668
chr101398773913988329E068-18062
chr101400235614002413E068-3978
chr101400254414002596E068-3795
chr101400266614002956E068-3435
chr101401300514013194E0686614
chr101401345614013601E0687065
chr101401369614013767E0687305
chr101401382714014472E0687436
chr101402912414029220E06822733
chr101402927014029370E06822879
chr101402941514029904E06823024
chr101403202814033834E06825637
chr101405274314053154E06846352
chr101395669713956743E069-49648
chr101395701213957072E069-49319
chr101395729113957355E069-49036
chr101395775113958109E069-48282
chr101396803513968758E069-37633
chr101398201713982076E069-24315
chr101398758313987723E069-18668
chr101398773913988329E069-18062
chr101400156214001839E069-4552
chr101400186514002285E069-4106
chr101400235614002413E069-3978
chr101401345614013601E0697065
chr101401369614013767E0697305
chr101401382714014472E0697436
chr101401451914014570E0698128
chr101403202814033834E06925637
chr101404919514049414E06942804
chr101404944014049531E06943049
chr101398412013984429E070-21962
chr101398443513984493E070-21898
chr101398678113986916E070-19475
chr101398698113987052E070-19339
chr101398708613987189E070-19202
chr101398726913987334E070-19057
chr101398738813987451E070-18940
chr101398747113987557E070-18834
chr101398758313987723E070-18668
chr101398773913988329E070-18062
chr101400156214001839E070-4552
chr101400186514002285E070-4106
chr101400235614002413E070-3978
chr101400254414002596E070-3795
chr101400266614002956E070-3435
chr101400298214003563E070-2828
chr101400361614003731E070-2660
chr101400453614004600E070-1791
chr101400467814004841E070-1550
chr101400497614005151E070-1240
chr101401233814012864E0705947
chr101401345614013601E0707065
chr101401369614013767E0707305
chr101401382714014472E0707436
chr101401451914014570E0708128
chr101401463614014962E0708245
chr101401515414015194E0708763
chr101401557714016172E0709186
chr101401627214016368E0709881
chr101401647214016522E07010081
chr101403188214031961E07025491
chr101403202814033834E07025637
chr101403391314033984E07027522
chr101403409014034271E07027699
chr101404330414044520E07036913
chr101404472114044761E07038330
chr101404489514044958E07038504
chr101404500514045114E07038614
chr101404520814045306E07038817
chr101404944014049531E07043049
chr101395669713956743E071-49648
chr101395701213957072E071-49319
chr101395729113957355E071-49036
chr101395775113958109E071-48282
chr101395838013958605E071-47786
chr101395871313958775E071-47616
chr101395902013959133E071-47258
chr101395918113959241E071-47150
chr101397045513970603E071-35788
chr101397061113970898E071-35493
chr101397095713971086E071-35305
chr101397949313979595E071-26796
chr101398773913988329E071-18062
chr101398840013988636E071-17755
chr101399863813999393E071-6998
chr101401233814012864E0715947
chr101401300514013194E0716614
chr101401345614013601E0717065
chr101401382714014472E0717436
chr101403167214031748E07125281
chr101403188214031961E07125491
chr101403391314033984E07127522
chr101403502514036152E07128634
chr101403884314038893E07132452
chr101403917614039230E07132785
chr101404944014049531E07143049
chr101395701213957072E072-49319
chr101395729113957355E072-49036
chr101395775113958109E072-48282
chr101395838013958605E072-47786
chr101395871313958775E072-47616
chr101399863813999393E072-6998
chr101402710714027198E07220716
chr101402726514027315E07220874
chr101402737714027482E07220986
chr101402757014027619E07221179
chr101403202814033834E07225637
chr101403502514036152E07228634
chr101404330414044520E07236913
chr101404472114044761E07238330
chr101395701213957072E073-49319
chr101395729113957355E073-49036
chr101395775113958109E073-48282
chr101398773913988329E073-18062
chr101398840013988636E073-17755
chr101398884213988902E073-17489
chr101400156214001839E073-4552
chr101400186514002285E073-4106
chr101401345614013601E0737065
chr101401369614013767E0737305
chr101401382714014472E0737436
chr101403167214031748E07325281
chr101403188214031961E07325491
chr101403202814033834E07325637
chr101395669713956743E074-49648
chr101395701213957072E074-49319
chr101395729113957355E074-49036
chr101395775113958109E074-48282
chr101395838013958605E074-47786
chr101395871313958775E074-47616
chr101395902013959133E074-47258
chr101395918113959241E074-47150
chr101396803513968758E074-37633
chr101397045513970603E074-35788
chr101397061113970898E074-35493
chr101397095713971086E074-35305
chr101398678113986916E074-19475
chr101398698113987052E074-19339
chr101398708613987189E074-19202
chr101399863813999393E074-6998
chr101400186514002285E074-4106
chr101400235614002413E074-3978
chr101400254414002596E074-3795
chr101400266614002956E074-3435
chr101400467814004841E074-1550
chr101401345614013601E0747065
chr101401369614013767E0747305
chr101402992614029994E07423535
chr101403030114030370E07423910
chr101403202814033834E07425637
chr101403391314033984E07427522
chr101403409014034271E07427699
chr101396803513968758E081-37633
chr101396887913968930E081-37461
chr101396926713969324E081-37067
chr101396933713969377E081-37014
chr101396949713970005E081-36386
chr101397015913970297E081-36094
chr101397045513970603E081-35788
chr101397061113970898E081-35493
chr101397095713971086E081-35305
chr101397118413971326E081-35065
chr101397139613971469E081-34922
chr101397173913971792E081-34599
chr101400467814004841E081-1550
chr101400497614005151E081-1240
chr101401300514013194E0816614
chr101401345614013601E0817065
chr101401369614013767E0817305
chr101401382714014472E0817436
chr101401451914014570E0818128
chr101401463614014962E0818245
chr101401681414016947E08110423
chr101401702914017185E08110638
chr101402015514020239E08113764
chr101403124414031298E08124853
chr101403202814033834E08125637
chr101404274814042828E08136357
chr101404330414044520E08136913
chr101404472114044761E08138330
chr101404489514044958E08138504
chr101404500514045114E08138614
chr101404520814045306E08138817
chr101404540714045571E08139016
chr101404919514049414E08142804
chr101404944014049531E08143049
chr101396803513968758E082-37633
chr101397045513970603E082-35788
chr101397061113970898E082-35493
chr101397095713971086E082-35305
chr101397118413971326E082-35065
chr101397139613971469E082-34922
chr101400453614004600E082-1791
chr101400467814004841E082-1550
chr101400497614005151E082-1240
chr101401300514013194E0826614
chr101401345614013601E0827065
chr101401369614013767E0827305
chr101401515414015194E0828763
chr101403202814033834E08225637
chr101403391314033984E08227522
chr101403502514036152E08228634
chr101404274814042828E08236357
chr101404330414044520E08236913
chr101404472114044761E08238330
chr101404489514044958E08238504
chr101404500514045114E08238614
chr101404520814045306E08238817
chr101404540714045571E08239016
chr101404919514049414E08242804
chr101404944014049531E08243049










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr101404957614052641E06843185
chr101404957614052641E07143185
chr101404957614052641E07343185