rs4807154

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

KLF16 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0052 (1553/29816,GnomAD)
T=0043 (1279/29118,TOPMED)
T=0129 (645/5008,1000G)
T=0030 (114/3854,ALSPAC)
T=0030 (112/3708,TWINSUK)

Position: chr19:1858874 (GRCh38.p7) (19p13.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 246 Enhancers around

Promoter: 73 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.1858874C>T
GRCh37.p13 chr 19	NC_000019.9:g.1858873C>T

Gene: KLF16, Kruppel-like factor 16(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KLF16 transcript	NM_031918.3:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.990	T=0.010
1000Genomes	American	Sub	694	C=0.740	T=0.260
1000Genomes	East Asian	Sub	1008	C=0.734	T=0.266
1000Genomes	Europe	Sub	1006	C=0.957	T=0.043
1000Genomes	Global	Study-wide	5008	C=0.871	T=0.129
1000Genomes	South Asian	Sub	978	C=0.860	T=0.140
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.970	T=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.956	T=0.043
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.970	T=0.030

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs4807154	0.0006	alcohol dependence	20201924

eQTL of rs4807154 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 rs4807154 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 )
chr19	1825807	1825931	E067	-32942
chr19	1825934	1827449	E067	-31424
chr19	1833138	1833374	E067	-25499
chr19	1833381	1834276	E067	-24597
chr19	1834383	1834654	E067	-24219
chr19	1837313	1838410	E067	-20463
chr19	1842940	1843047	E067	-15826
chr19	1843531	1843613	E067	-15260
chr19	1843740	1844493	E067	-14380
chr19	1844612	1844777	E067	-14096
chr19	1844825	1844875	E067	-13998
chr19	1844960	1845031	E067	-13842
chr19	1845082	1845132	E067	-13741
chr19	1845161	1845302	E067	-13571
chr19	1845318	1845596	E067	-13277
chr19	1845695	1845807	E067	-13066
chr19	1845841	1845999	E067	-12874
chr19	1846115	1846203	E067	-12670
chr19	1846265	1846536	E067	-12337
chr19	1846638	1846688	E067	-12185
chr19	1846700	1846750	E067	-12123
chr19	1872798	1873006	E067	13925
chr19	1880367	1880521	E067	21494
chr19	1907242	1907331	E067	48369
chr19	1907439	1907742	E067	48566
chr19	1907785	1908335	E067	48912
chr19	1908376	1908610	E067	49503
chr19	1908693	1908747	E067	49820
chr19	1908770	1908814	E067	49897
chr19	1813592	1813658	E068	-45215
chr19	1825934	1827449	E068	-31424
chr19	1833019	1833105	E068	-25768
chr19	1833138	1833374	E068	-25499
chr19	1833381	1834276	E068	-24597
chr19	1837313	1838410	E068	-20463
chr19	1840709	1841186	E068	-17687
chr19	1841208	1841294	E068	-17579
chr19	1841373	1841539	E068	-17334
chr19	1841659	1841753	E068	-17120
chr19	1841823	1841887	E068	-16986
chr19	1841907	1841960	E068	-16913
chr19	1843740	1844493	E068	-14380
chr19	1844612	1844777	E068	-14096
chr19	1844825	1844875	E068	-13998
chr19	1844960	1845031	E068	-13842
chr19	1845082	1845132	E068	-13741
chr19	1845161	1845302	E068	-13571
chr19	1845318	1845596	E068	-13277
chr19	1845695	1845807	E068	-13066
chr19	1845841	1845999	E068	-12874
chr19	1846115	1846203	E068	-12670
chr19	1846265	1846536	E068	-12337
chr19	1872405	1872727	E068	13532
chr19	1872798	1873006	E068	13925
chr19	1873047	1874059	E068	14174
chr19	1880367	1880521	E068	21494
chr19	1885942	1886163	E068	27069
chr19	1906466	1906516	E068	47593
chr19	1907242	1907331	E068	48369
chr19	1907439	1907742	E068	48566
chr19	1907785	1908335	E068	48912
chr19	1825807	1825931	E069	-32942
chr19	1833381	1834276	E069	-24597
chr19	1834383	1834654	E069	-24219
chr19	1837313	1838410	E069	-20463
chr19	1843740	1844493	E069	-14380
chr19	1844612	1844777	E069	-14096
chr19	1844825	1844875	E069	-13998
chr19	1844960	1845031	E069	-13842
chr19	1845082	1845132	E069	-13741
chr19	1845161	1845302	E069	-13571
chr19	1845318	1845596	E069	-13277
chr19	1845695	1845807	E069	-13066
chr19	1845841	1845999	E069	-12874
chr19	1846115	1846203	E069	-12670
chr19	1846265	1846536	E069	-12337
chr19	1846638	1846688	E069	-12185
chr19	1846700	1846750	E069	-12123
chr19	1872405	1872727	E069	13532
chr19	1872798	1873006	E069	13925
chr19	1873047	1874059	E069	14174
chr19	1885942	1886163	E069	27069
chr19	1903017	1903710	E069	44144
chr19	1903831	1903979	E069	44958
chr19	1907242	1907331	E069	48369
chr19	1907439	1907742	E069	48566
chr19	1907785	1908335	E069	48912
chr19	1908693	1908747	E069	49820
chr19	1908770	1908814	E069	49897
chr19	1844825	1844875	E070	-13998
chr19	1844960	1845031	E070	-13842
chr19	1845082	1845132	E070	-13741
chr19	1845161	1845302	E070	-13571
chr19	1845318	1845596	E070	-13277
chr19	1845695	1845807	E070	-13066
chr19	1846115	1846203	E070	-12670
chr19	1846265	1846536	E070	-12337
chr19	1846638	1846688	E070	-12185
chr19	1846700	1846750	E070	-12123
chr19	1873047	1874059	E070	14174
chr19	1813592	1813658	E071	-45215
chr19	1825934	1827449	E071	-31424
chr19	1833381	1834276	E071	-24597
chr19	1834383	1834654	E071	-24219
chr19	1834760	1834822	E071	-24051
chr19	1835071	1835197	E071	-23676
chr19	1837313	1838410	E071	-20463
chr19	1841659	1841753	E071	-17120
chr19	1841823	1841887	E071	-16986
chr19	1841907	1841960	E071	-16913
chr19	1842126	1842770	E071	-16103
chr19	1843740	1844493	E071	-14380
chr19	1844612	1844777	E071	-14096
chr19	1844825	1844875	E071	-13998
chr19	1844960	1845031	E071	-13842
chr19	1845082	1845132	E071	-13741
chr19	1845161	1845302	E071	-13571
chr19	1845318	1845596	E071	-13277
chr19	1845695	1845807	E071	-13066
chr19	1845841	1845999	E071	-12874
chr19	1846115	1846203	E071	-12670
chr19	1846265	1846536	E071	-12337
chr19	1846638	1846688	E071	-12185
chr19	1846700	1846750	E071	-12123
chr19	1850829	1854034	E071	-4839
chr19	1872405	1872727	E071	13532
chr19	1872798	1873006	E071	13925
chr19	1873047	1874059	E071	14174
chr19	1885942	1886163	E071	27069
chr19	1903831	1903979	E071	44958
chr19	1907242	1907331	E071	48369
chr19	1907439	1907742	E071	48566
chr19	1908693	1908747	E071	49820
chr19	1908770	1908814	E071	49897
chr19	1813592	1813658	E072	-45215
chr19	1825807	1825931	E072	-32942
chr19	1825934	1827449	E072	-31424
chr19	1833381	1834276	E072	-24597
chr19	1834383	1834654	E072	-24219
chr19	1834760	1834822	E072	-24051
chr19	1837313	1838410	E072	-20463
chr19	1838453	1838547	E072	-20326
chr19	1843740	1844493	E072	-14380
chr19	1844825	1844875	E072	-13998
chr19	1845695	1845807	E072	-13066
chr19	1845841	1845999	E072	-12874
chr19	1846115	1846203	E072	-12670
chr19	1846265	1846536	E072	-12337
chr19	1850829	1854034	E072	-4839
chr19	1872798	1873006	E072	13925
chr19	1880367	1880521	E072	21494
chr19	1881544	1881584	E072	22671
chr19	1907439	1907742	E072	48566
chr19	1908693	1908747	E072	49820
chr19	1908770	1908814	E072	49897
chr19	1825807	1825931	E073	-32942
chr19	1833381	1834276	E073	-24597
chr19	1834383	1834654	E073	-24219
chr19	1834760	1834822	E073	-24051
chr19	1837313	1838410	E073	-20463
chr19	1839663	1840231	E073	-18642
chr19	1840267	1840317	E073	-18556
chr19	1840354	1840475	E073	-18398
chr19	1840547	1840696	E073	-18177
chr19	1840709	1841186	E073	-17687
chr19	1842779	1842909	E073	-15964
chr19	1842940	1843047	E073	-15826
chr19	1843531	1843613	E073	-15260
chr19	1843740	1844493	E073	-14380
chr19	1844612	1844777	E073	-14096
chr19	1844825	1844875	E073	-13998
chr19	1844960	1845031	E073	-13842
chr19	1845082	1845132	E073	-13741
chr19	1845161	1845302	E073	-13571
chr19	1845695	1845807	E073	-13066
chr19	1845841	1845999	E073	-12874
chr19	1846115	1846203	E073	-12670
chr19	1846265	1846536	E073	-12337
chr19	1846638	1846688	E073	-12185
chr19	1846700	1846750	E073	-12123
chr19	1872405	1872727	E073	13532
chr19	1872798	1873006	E073	13925
chr19	1881544	1881584	E073	22671
chr19	1907242	1907331	E073	48369
chr19	1907439	1907742	E073	48566
chr19	1908693	1908747	E073	49820
chr19	1908770	1908814	E073	49897
chr19	1833138	1833374	E074	-25499
chr19	1833381	1834276	E074	-24597
chr19	1834383	1834654	E074	-24219
chr19	1834760	1834822	E074	-24051
chr19	1835071	1835197	E074	-23676
chr19	1837313	1838410	E074	-20463
chr19	1843740	1844493	E074	-14380
chr19	1844612	1844777	E074	-14096
chr19	1844825	1844875	E074	-13998
chr19	1844960	1845031	E074	-13842
chr19	1845082	1845132	E074	-13741
chr19	1845161	1845302	E074	-13571
chr19	1845318	1845596	E074	-13277
chr19	1845695	1845807	E074	-13066
chr19	1845841	1845999	E074	-12874
chr19	1846115	1846203	E074	-12670
chr19	1846265	1846536	E074	-12337
chr19	1846638	1846688	E074	-12185
chr19	1846700	1846750	E074	-12123
chr19	1872405	1872727	E074	13532
chr19	1872798	1873006	E074	13925
chr19	1873047	1874059	E074	14174
chr19	1881544	1881584	E074	22671
chr19	1898194	1898470	E074	39321
chr19	1907242	1907331	E074	48369
chr19	1907439	1907742	E074	48566
chr19	1907785	1908335	E074	48912
chr19	1908376	1908610	E074	49503
chr19	1908693	1908747	E074	49820
chr19	1908770	1908814	E074	49897
chr19	1813592	1813658	E081	-45215
chr19	1813678	1814114	E081	-44759
chr19	1825807	1825931	E081	-32942
chr19	1825934	1827449	E081	-31424
chr19	1835071	1835197	E081	-23676
chr19	1837313	1838410	E081	-20463
chr19	1846265	1846536	E081	-12337
chr19	1846638	1846688	E081	-12185
chr19	1846700	1846750	E081	-12123
chr19	1850829	1854034	E081	-4839
chr19	1873047	1874059	E081	14174
chr19	1906466	1906516	E081	47593
chr19	1906705	1906792	E081	47832
chr19	1906951	1907001	E081	48078
chr19	1907785	1908335	E081	48912
chr19	1845082	1845132	E082	-13741
chr19	1845161	1845302	E082	-13571
chr19	1845318	1845596	E082	-13277
chr19	1845695	1845807	E082	-13066
chr19	1845841	1845999	E082	-12874
chr19	1846115	1846203	E082	-12670
chr19	1846265	1846536	E082	-12337
chr19	1872798	1873006	E082	13925
chr19	1873047	1874059	E082	14174
chr19	1906466	1906516	E082	47593
chr19	1906705	1906792	E082	47832
chr19	1906951	1907001	E082	48078
chr19	1907242	1907331	E082	48369
chr19	1907439	1907742	E082	48566

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	1847326	1849259	E067	-9614
chr19	1874472	1875263	E067	15599
chr19	1875314	1875562	E067	16441
chr19	1875606	1876998	E067	16733
chr19	1883879	1885344	E067	25006
chr19	1885421	1885805	E067	26548
chr19	1904214	1906296	E067	45341
chr19	1811420	1813580	E068	-45293
chr19	1847326	1849259	E068	-9614
chr19	1874472	1875263	E068	15599
chr19	1875314	1875562	E068	16441
chr19	1875606	1876998	E068	16733
chr19	1883879	1885344	E068	25006
chr19	1885421	1885805	E068	26548
chr19	1904214	1906296	E068	45341
chr19	1811420	1813580	E069	-45293
chr19	1847326	1849259	E069	-9614
chr19	1874472	1875263	E069	15599
chr19	1875314	1875562	E069	16441
chr19	1875606	1876998	E069	16733
chr19	1883879	1885344	E069	25006
chr19	1885421	1885805	E069	26548
chr19	1904214	1906296	E069	45341
chr19	1811420	1813580	E070	-45293
chr19	1847326	1849259	E070	-9614
chr19	1874472	1875263	E070	15599
chr19	1875314	1875562	E070	16441
chr19	1875606	1876998	E070	16733
chr19	1877378	1877507	E070	18505
chr19	1883879	1885344	E070	25006
chr19	1885421	1885805	E070	26548
chr19	1904214	1906296	E070	45341
chr19	1811420	1813580	E071	-45293
chr19	1847326	1849259	E071	-9614
chr19	1874472	1875263	E071	15599
chr19	1875314	1875562	E071	16441
chr19	1875606	1876998	E071	16733
chr19	1883879	1885344	E071	25006
chr19	1885421	1885805	E071	26548
chr19	1904214	1906296	E071	45341
chr19	1811420	1813580	E072	-45293
chr19	1847326	1849259	E072	-9614
chr19	1874472	1875263	E072	15599
chr19	1875314	1875562	E072	16441
chr19	1875606	1876998	E072	16733
chr19	1883879	1885344	E072	25006
chr19	1885421	1885805	E072	26548
chr19	1904214	1906296	E072	45341
chr19	1811420	1813580	E073	-45293
chr19	1847326	1849259	E073	-9614
chr19	1874472	1875263	E073	15599
chr19	1875314	1875562	E073	16441
chr19	1875606	1876998	E073	16733
chr19	1883879	1885344	E073	25006
chr19	1885421	1885805	E073	26548
chr19	1904214	1906296	E073	45341
chr19	1847326	1849259	E074	-9614
chr19	1874472	1875263	E074	15599
chr19	1875314	1875562	E074	16441
chr19	1875606	1876998	E074	16733
chr19	1883879	1885344	E074	25006
chr19	1904214	1906296	E074	45341
chr19	1875314	1875562	E081	16441
chr19	1883879	1885344	E081	25006
chr19	1811420	1813580	E082	-45293
chr19	1847326	1849259	E082	-9614
chr19	1874472	1875263	E082	15599
chr19	1875314	1875562	E082	16441
chr19	1875606	1876998	E082	16733
chr19	1877378	1877507	E082	18505
chr19	1883879	1885344	E082	25006
chr19	1885421	1885805	E082	26548
chr19	1904214	1906296	E082	45341