Variant report

Variant	rs4694170
Chromosome Location	chr4:74373060-74373061
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10028196	0.82[EUR][1000 genomes]
rs10028276	0.81[EUR][1000 genomes]
rs10029673	0.82[CEU][hapmap]
rs10518115	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805065	0.82[EUR][1000 genomes]
rs10938079	0.82[CEU][hapmap]
rs10938085	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10938086	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1159624	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1247670	0.85[CEU][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs1247671	0.85[CEU][hapmap];0.93[TSI][hapmap]
rs12508661	0.85[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs12508974	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12510629	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12510870	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13103378	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13120998	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13133747	0.82[EUR][1000 genomes]
rs13150405	0.81[AMR][1000 genomes]
rs13353732	0.89[ASN][1000 genomes]
rs1358592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1528924	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1569204	1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16849364	1.00[ASW][hapmap]
rs17192413	0.85[CEU][hapmap]
rs1881611	0.86[ASN][1000 genomes]
rs1997332	0.82[CEU][hapmap]
rs2071097	0.80[AMR][1000 genomes]
rs2178292	0.82[EUR][1000 genomes]
rs2204736	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34123018	0.81[EUR][1000 genomes]
rs34238679	0.81[EUR][1000 genomes]
rs35858007	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35988516	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4235119	0.81[CEU][hapmap]
rs4267703	0.82[CEU][hapmap]
rs4438732	0.82[EUR][1000 genomes]
rs4694173	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56011127	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56384466	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6446937	0.90[CEU][hapmap]
rs6446938	0.82[CEU][hapmap]
rs6446939	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6446941	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6838329	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6852149	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs72647083	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72649103	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9990707	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430875	chr4:74243646-74420354	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4694170	CCDC158	cis	parietal	SCAN
rs4694170	MUC7	cis	cerebellum	SCAN
rs4694170	ART3	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74371800-74374600	Enhancers	Liver	Liver
2	chr4:74372200-74374200	Enhancers	HepG2	liver
3	chr4:74372400-74374600	Enhancers	Fetal Intestine Small	intestine
4	chr4:74373000-74373600	Enhancers	Fetal Intestine Large	intestine
5	chr4:74373000-74374200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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