SNP Detail Info-rs1507030

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.7561154C>G
GRCh37.p13 chr 16	NC_000016.9:g.7611156C>G
RBFOX1 RefSeqGene	NG_011881.1:g.1547025C>G

Gene: RBFOX1, RNA binding protein, fox-1 homolog 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RBFOX1 transcript variant 5	NM_001142333.1:c.	N/A	Intron Variant
RBFOX1 transcript variant 6	NM_001142334.1:c.	N/A	Intron Variant
RBFOX1 transcript variant 7	NM_001308117.1:c.	N/A	Intron Variant
RBFOX1 transcript variant 4	NM_018723.3:c.	N/A	Intron Variant
RBFOX1 transcript variant 1	NM_145891.2:c.	N/A	Intron Variant
RBFOX1 transcript variant 2	NM_145892.2:c.	N/A	Intron Variant
RBFOX1 transcript variant 3	NM_145893.2:c.	N/A	Intron Variant
RBFOX1 transcript variant X6	XM_005255386.3:c.	N/A	Intron Variant
RBFOX1 transcript variant X8	XM_005255387.3:c.	N/A	Intron Variant
RBFOX1 transcript variant X10	XM_005255388.4:c.	N/A	Intron Variant
RBFOX1 transcript variant X11	XM_005255390.3:c.	N/A	Intron Variant
RBFOX1 transcript variant X12	XM_005255391.3:c.	N/A	Intron Variant
RBFOX1 transcript variant X28	XM_005255394.4:c.	N/A	Intron Variant
RBFOX1 transcript variant X18	XM_011522546.2:c.	N/A	Intron Variant
RBFOX1 transcript variant X26	XM_011522547.2:c.	N/A	Intron Variant
RBFOX1 transcript variant X39	XM_011522548.2:c.	N/A	Intron Variant
RBFOX1 transcript variant X1	XM_017023318.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X2	XM_017023319.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X3	XM_017023320.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X4	XM_017023321.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X5	XM_017023322.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X7	XM_017023323.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X9	XM_017023324.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X13	XM_017023325.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X14	XM_017023326.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X16	XM_017023327.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X16	XM_017023328.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X18	XM_017023329.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X21	XM_017023330.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X20	XM_017023331.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X23	XM_017023332.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X24	XM_017023333.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X25	XM_017023334.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X26	XM_017023335.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X36	XM_017023336.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X37	XM_017023337.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X38	XM_017023338.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X30	XM_017023339.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X41	XM_017023340.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X33	XM_017023341.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X44	XM_017023342.1:c.	N/A	Intron Variant
RBFOX1 transcript variant X35	XM_017023343.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.420	G=0.580
1000Genomes	American	Sub	694	C=0.360	G=0.640
1000Genomes	East Asian	Sub	1008	C=0.545	G=0.455
1000Genomes	Europe	Sub	1006	C=0.389	G=0.611
1000Genomes	Global	Study-wide	5008	C=0.442	G=0.558
1000Genomes	South Asian	Sub	978	C=0.480	G=0.520
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.378	G=0.622
The Genome Aggregation Database	African	Sub	8704	C=0.406	G=0.594
The Genome Aggregation Database	American	Sub	838	C=0.340	G=0.660
The Genome Aggregation Database	East Asian	Sub	1614	C=0.556	G=0.444
The Genome Aggregation Database	Europe	Sub	18472	C=0.375	G=0.624
The Genome Aggregation Database	Global	Study-wide	29928	C=0.393	G=0.606
The Genome Aggregation Database	Other	Sub	300	C=0.400	G=0.600
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.391	G=0.608
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.364	G=0.636

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs1507030	0.000376	nicotine smoking	19268276

eQTL of rs1507030 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 rs1507030 in Fetal Brain

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

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr16	7562506	7562556	E068	-48600
chr16	7566446	7566946	E068	-44210
chr16	7567019	7567113	E068	-44043
chr16	7614564	7614660	E068	3408
chr16	7614738	7614826	E068	3582
chr16	7660523	7660604	E068	49367
chr16	7566266	7566391	E072	-44765
chr16	7566446	7566946	E072	-44210
chr16	7567019	7567113	E072	-44043
chr16	7567237	7567965	E072	-43191
chr16	7566266	7566391	E073	-44765
chr16	7564251	7564301	E081	-46855
chr16	7564571	7564621	E081	-46535
chr16	7564861	7565002	E081	-46154
chr16	7566266	7566391	E081	-44765
chr16	7566446	7566946	E081	-44210
chr16	7567019	7567113	E081	-44043
chr16	7567237	7567965	E081	-43191
chr16	7568032	7568128	E081	-43028
chr16	7575334	7575384	E081	-35772
chr16	7575431	7575596	E081	-35560
chr16	7611730	7611917	E081	574
chr16	7611971	7612207	E081	815
chr16	7612294	7612355	E081	1138
chr16	7566446	7566946	E082	-44210
chr16	7567019	7567113	E082	-44043
chr16	7567237	7567965	E082	-43191

rs1507030

Genomic Coordinates

Gene: RBFOX1, RNA binding protein, fox-1 homolog 1(plus strand)

Population Frequency

P-Value

eQTL of rs1507030 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1507030 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)