Variant report

Variant	rs1358592
Chromosome Location	chr4:74373849-74373850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10002756	0.84[JPT][hapmap]
rs10016403	0.90[ASN][1000 genomes]
rs10028196	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10028276	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10029673	0.82[CEU][hapmap]
rs10212657	0.96[ASN][1000 genomes]
rs10213305	0.96[ASN][1000 genomes]
rs10518115	1.00[ASW][hapmap];0.85[CEU][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10805065	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10938077	0.98[ASN][1000 genomes]
rs10938078	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10938079	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10938085	0.81[EUR][1000 genomes]
rs10938086	0.81[EUR][1000 genomes]
rs1158101	0.87[ASN][1000 genomes]
rs1159624	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11728915	0.81[ASN][1000 genomes]
rs11733262	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11935001	0.96[ASN][1000 genomes]
rs11939341	0.93[ASN][1000 genomes]
rs11943798	0.89[ASN][1000 genomes]
rs1247670	0.85[CEU][hapmap];0.93[TSI][hapmap]
rs1247671	0.85[CEU][hapmap];0.93[TSI][hapmap]
rs12504448	0.98[ASN][1000 genomes]
rs12508661	0.85[CEU][hapmap];0.91[TSI][hapmap]
rs12508974	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12510629	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12510870	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs13103378	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13107306	0.85[ASN][1000 genomes]
rs13120998	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13124940	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs13133747	0.81[EUR][1000 genomes]
rs13150405	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1528924	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1569204	0.86[MEX][hapmap]
rs1590115	0.96[ASN][1000 genomes]
rs1590116	0.96[ASN][1000 genomes]
rs16849364	1.00[ASW][hapmap]
rs16849461	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs16849484	0.85[ASN][1000 genomes]
rs16849508	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17192413	0.85[CEU][hapmap]
rs1894293	0.94[ASN][1000 genomes]
rs1919469	0.89[ASN][1000 genomes]
rs1919479	0.96[ASN][1000 genomes]
rs1997332	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1997333	0.98[ASN][1000 genomes]
rs2040354	0.95[ASN][1000 genomes]
rs2071097	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2071098	0.85[ASN][1000 genomes]
rs2141465	0.98[ASN][1000 genomes]
rs2141470	0.94[ASN][1000 genomes]
rs2178290	0.98[ASN][1000 genomes]
rs2178292	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2204736	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28838047	0.80[ASN][1000 genomes]
rs34238679	0.93[ASN][1000 genomes]
rs34468776	0.96[ASN][1000 genomes]
rs35233345	0.96[ASN][1000 genomes]
rs35858007	0.81[EUR][1000 genomes]
rs35988516	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3765639	0.83[ASN][1000 genomes]
rs4235119	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4267703	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4267704	0.98[ASN][1000 genomes]
rs4267705	0.98[ASN][1000 genomes]
rs4438732	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4574378	0.89[ASN][1000 genomes]
rs4618279	0.96[ASN][1000 genomes]
rs4631010	0.93[ASN][1000 genomes]
rs4694170	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]
rs4694173	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56011127	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56384466	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6446937	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.98[ASN][1000 genomes]
rs6446938	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6446939	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6446941	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6838329	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6852149	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6852772	0.86[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs72647083	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72649103	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7676460	0.87[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
rs1358592	MUC7	cis	cerebellum	SCAN
rs1358592	CCDC158	cis	parietal	SCAN
rs1358592	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	chr4:74373000-74374200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:74373600-74374000	Weak transcription	Fetal Intestine Large	intestine

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