SNP Detail Info-rs4444357

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.7140074C>G
GRCh38.p7 chr 16	NC_000016.10:g.7140074C>T
GRCh37.p13 chr 16	NC_000016.9:g.7190075C>G
GRCh37.p13 chr 16	NC_000016.9:g.7190075C>T
RBFOX1 RefSeqGene	NG_011881.1:g.1125944C>G
RBFOX1 RefSeqGene	NG_011881.1:g.1125944C>T

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	Genic Upstream Transcript Variant
RBFOX1 transcript variant 2	NM_145892.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant 3	NM_145893.2:c.	N/A	Genic Upstream Transcript 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 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 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_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 X24	XM_017023333.1: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 X38	XM_017023338.1: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 X6	XM_005255386.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X8	XM_005255387.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X10	XM_005255388.4:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X28	XM_005255394.4:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X18	XM_011522546.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X26	XM_011522547.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X39	XM_011522548.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X7	XM_017023323.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X16	XM_017023327.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X20	XM_017023331.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X23	XM_017023332.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X25	XM_017023334.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X37	XM_017023337.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X30	XM_017023339.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X35	XM_017023343.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.632	T=0.368
1000Genomes	American	Sub	694	C=0.210	T=0.790
1000Genomes	East Asian	Sub	1008	C=0.235	T=0.765
1000Genomes	Europe	Sub	1006	C=0.208	T=0.792
1000Genomes	Global	Study-wide	5008	C=0.327	T=0.673
1000Genomes	South Asian	Sub	978	C=0.210	T=0.790
The Genome Aggregation Database	African	Sub	8616	C=0.566	T=0.434
The Genome Aggregation Database	American	Sub	832	C=0.200	T=0.80,
The Genome Aggregation Database	East Asian	Sub	1602	C=0.227	T=0.773
The Genome Aggregation Database	Europe	Sub	18306	C=0.209	T=0.790
The Genome Aggregation Database	Global	Study-wide	29656	C=0.314	T=0.685
The Genome Aggregation Database	Other	Sub	300	C=0.250	T=0.75,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.377	T=0.622

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs4444357	1.9E-05	alcohol consumption	23743675

eQTL of rs4444357 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 rs4444357 in Fetal Brain

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr16	82202381	82202446	E067	-29998
chr16	82223529	82224363	E068	-8081
chr16	82281727	82281834	E068	49283
chr16	82281945	82282010	E068	49501
chr16	82282026	82282077	E068	49582
chr16	82282281	82282335	E068	49837
chr16	82202381	82202446	E070	-29998
chr16	82202381	82202446	E071	-29998
chr16	82204678	82204761	E071	-27683
chr16	82223529	82224363	E071	-8081
chr16	82193965	82194250	E072	-38194
chr16	82202381	82202446	E072	-29998
chr16	82202381	82202446	E074	-29998
chr16	82222817	82223046	E074	-9398
chr16	82223529	82224363	E074	-8081
chr16	82194999	82195387	E081	-37057
chr16	82195682	82195722	E081	-36722
chr16	82202381	82202446	E081	-29998
chr16	82204678	82204761	E081	-27683

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr16	82203209	82204552	E067	-27892
chr16	82203209	82204552	E068	-27892
chr16	82203209	82204552	E069	-27892
chr16	82203209	82204552	E070	-27892
chr16	82203209	82204552	E071	-27892
chr16	82203209	82204552	E072	-27892
chr16	82203209	82204552	E073	-27892
chr16	82203209	82204552	E074	-27892
chr16	82203209	82204552	E081	-27892
chr16	82203209	82204552	E082	-27892

rs4444357

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs4444357 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs4444357 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)