Variant report

Variant	rs4754803
Chromosome Location	chr11:101679800-101679801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1006330	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10459002	0.92[ASN][1000 genomes]
rs10750618	0.80[ASN][1000 genomes]
rs10895193	0.81[ASN][1000 genomes]
rs10895203	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895204	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895209	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10895225	0.84[JPT][hapmap]
rs11224994	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11224995	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11225004	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225005	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225011	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11225012	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11225014	0.84[AMR][1000 genomes]
rs11225015	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225018	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11225019	0.97[ASN][1000 genomes]
rs11225022	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225023	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225033	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11225034	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11225045	0.83[ASN][1000 genomes]
rs11225046	0.83[ASN][1000 genomes]
rs11602758	0.83[ASN][1000 genomes]
rs12223480	0.80[ASN][1000 genomes]
rs12361399	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12361929	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12364967	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12365011	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17746310	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1939034	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1939035	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1939038	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939043	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1939046	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939053	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939055	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939064	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1939065	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939067	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939068	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939072	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1939458	0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs1939460	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1946960	0.83[ASN][1000 genomes]
rs1954765	0.91[ASN][1000 genomes]
rs2105613	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2119735	0.83[ASN][1000 genomes]
rs2155060	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2155062	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2155063	0.83[ASN][1000 genomes]
rs2186609	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2897865	0.83[ASN][1000 genomes]
rs3920965	0.85[AMR][1000 genomes]
rs4414186	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429028	0.86[ASN][1000 genomes]
rs4492786	0.82[ASN][1000 genomes]
rs4503501	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4548585	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575231	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4586114	0.82[ASN][1000 genomes]
rs4754022	0.81[AMR][1000 genomes]
rs4754024	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4754030	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4754790	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4754791	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4754792	0.86[ASN][1000 genomes]
rs4754798	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4754801	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754804	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754807	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4754808	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754809	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754813	0.82[ASN][1000 genomes]
rs55854918	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56245539	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57513630	0.98[ASN][1000 genomes]
rs61915969	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61915970	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61916463	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7105933	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72986459	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7929894	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7931237	0.91[ASN][1000 genomes]
rs7949648	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898332	chr11:101562004-101732566	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv832249	chr11:101571819-101749073	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv430425	chr11:101626575-101741691	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1044622	chr11:101662199-101689311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1038458	chr11:101662199-101712638	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1048625	chr11:101667158-101720068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4754803	MMP27	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101677400-101682000	Enhancers	Fetal Lung	lung
2	chr11:101679400-101681600	Weak transcription	NHDF-Ad	bronchial

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