SNP Detail Info-rs8071463

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 17	NC_000017.11:g.67942539G>A
GRCh37.p13 chr 17 fix patch HG747_PATCH	NW_003871088.1:g.2550G>A
GRCh37.p13 chr 17	NC_000017.10:g.65938655G>A

Gene: BPTF, bromodomain PHD finger transcription factor(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BPTF transcript variant 2	NM_004459.6:c.	N/A	Intron Variant
BPTF transcript variant 1	NM_182641.3:c.	N/A	Intron Variant
BPTF transcript variant X1	XM_005257150.3:c.	N/A	Intron Variant
BPTF transcript variant X3	XM_005257151.3:c.	N/A	Intron Variant
BPTF transcript variant X4	XM_005257152.2:c.	N/A	Intron Variant
BPTF transcript variant X5	XM_005257153.3:c.	N/A	Intron Variant
BPTF transcript variant X6	XM_005257154.3:c.	N/A	Intron Variant
BPTF transcript variant X7	XM_005257155.3:c.	N/A	Intron Variant
BPTF transcript variant X8	XM_005257156.3:c.	N/A	Intron Variant
BPTF transcript variant X9	XM_005257157.3:c.	N/A	Intron Variant
BPTF transcript variant X13	XM_005257158.3:c.	N/A	Intron Variant
BPTF transcript variant X15	XM_005257159.2:c.	N/A	Intron Variant
BPTF transcript variant X18	XM_005257160.2:c.	N/A	Intron Variant
BPTF transcript variant X19	XM_005257161.3:c.	N/A	Intron Variant
BPTF transcript variant X2	XM_011524520.2:c.	N/A	Intron Variant
BPTF transcript variant X10	XM_011524521.2:c.	N/A	Intron Variant
BPTF transcript variant X14	XM_011524522.2:c.	N/A	Intron Variant
BPTF transcript variant X17	XM_011524523.2:c.	N/A	Intron Variant
BPTF transcript variant X19	XM_011524524.2:c.	N/A	Intron Variant
BPTF transcript variant X23	XM_011524525.2:c.	N/A	Intron Variant
BPTF transcript variant X24	XM_011524526.2:c.	N/A	Intron Variant
BPTF transcript variant X11	XM_017024353.1:c.	N/A	Intron Variant
BPTF transcript variant X18	XM_017024354.1:c.	N/A	Intron Variant
BPTF transcript variant X22	XR_001752449.1:n.	N/A	Genic Downstream Transcript Variant
BPTF transcript variant X21	XR_001752450.1:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.646	A=0.354
1000Genomes	American	Sub	694	G=0.290	A=0.710
1000Genomes	East Asian	Sub	1008	G=0.694	A=0.306
1000Genomes	Europe	Sub	1006	G=0.218	A=0.782
1000Genomes	Global	Study-wide	5008	G=0.447	A=0.553
1000Genomes	South Asian	Sub	978	G=0.270	A=0.730
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.195	A=0.805
The Genome Aggregation Database	African	Sub	8696	G=0.596	A=0.404
The Genome Aggregation Database	American	Sub	838	G=0.340	A=0.660
The Genome Aggregation Database	East Asian	Sub	1614	G=0.660	A=0.340
The Genome Aggregation Database	Europe	Sub	18492	G=0.212	A=0.787
The Genome Aggregation Database	Global	Study-wide	29942	G=0.351	A=0.648
The Genome Aggregation Database	Other	Sub	302	G=0.180	A=0.820
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.377	A=0.622
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.204	A=0.796

PMID	Title	Author	Journal
21703634	A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.	Wang KS	J Psychiatr Res

P-Value

SNP ID	p-value	Traits	Study
rs8071463	8.93E-05	alcohol dependence	21703634

eQTL of rs8071463 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr17:65938655	BPTF	ENSG00000171634.12	G>A	1.8755e-7	117015	Cerebellum
Chr17:65938655	KPNA2	ENSG00000182481.4	G>A	4.7434e-3	-92980	Caudate_basal_ganglia

meQTL of rs8071463 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 )
chr17	49643	49733	E067	47093
chr17	14162	14761	E068	11612
chr17	28404	28803	E068	25854
chr17	28864	29097	E068	26314
chr17	49451	49534	E069	46901
chr17	49562	49631	E069	47012
chr17	49643	49733	E069	47093
chr17	23032	23149	E070	20482
chr17	23245	23554	E070	20695
chr17	28404	28803	E070	25854
chr17	28864	29097	E070	26314
chr17	33241	33327	E073	30691
chr17	49451	49534	E073	46901
chr17	49562	49631	E073	47012
chr17	49643	49733	E073	47093
chr17	49762	50714	E073	47212
chr17	28404	28803	E081	25854
chr17	28864	29097	E081	26314
chr17	43936	44261	E081	41386
chr17	44316	44501	E081	41766
chr17	37133	37193	E082	34583

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr17	29545	29660	E068	26995
chr17	29710	30997	E068	27160
chr17	31150	31229	E068	28600
chr17	29710	30997	E069	27160
chr17	31150	31229	E069	28600
chr17	29545	29660	E070	26995
chr17	29710	30997	E070	27160
chr17	31150	31229	E070	28600
chr17	29710	30997	E071	27160
chr17	29545	29660	E072	26995
chr17	29710	30997	E072	27160
chr17	29545	29660	E073	26995
chr17	29710	30997	E073	27160
chr17	31150	31229	E073	28600
chr17	29545	29660	E074	26995
chr17	29710	30997	E082	27160
chr17	31150	31229	E082	28600

rs8071463

Genomic Coordinates

Gene: BPTF, bromodomain PHD finger transcription factor(plus strand)

Population Frequency

P-Value

eQTL of rs8071463 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs8071463 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)