Variant report

Variant	rs2508371
Chromosome Location	chr11:101268447-101268448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10458946	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10791460	0.96[EUR][1000 genomes]
rs10791461	0.97[EUR][1000 genomes]
rs10791465	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10895098	0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs10895099	0.86[EUR][1000 genomes]
rs10895107	0.91[EUR][1000 genomes]
rs11224719	0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs11224720	0.86[EUR][1000 genomes]
rs11224722	0.86[EUR][1000 genomes]
rs11224723	0.86[EUR][1000 genomes]
rs11224725	0.86[EUR][1000 genomes]
rs11224726	0.89[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11224728	0.88[EUR][1000 genomes]
rs11224729	0.83[ASW][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs11224743	0.97[ASN][1000 genomes]
rs11224745	0.97[ASN][1000 genomes]
rs11224747	0.98[ASN][1000 genomes]
rs11224748	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11224749	0.98[ASN][1000 genomes]
rs11224750	0.96[ASN][1000 genomes]
rs11224752	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11224753	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11224754	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11224755	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11224756	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11224758	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11532049	0.91[EUR][1000 genomes]
rs11534488	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12223715	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs12226605	0.87[EUR][1000 genomes]
rs12226883	0.80[ASN][1000 genomes]
rs12575087	0.86[EUR][1000 genomes]
rs12576141	0.86[EUR][1000 genomes]
rs12786491	0.80[ASN][1000 genomes]
rs12788470	0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12790159	0.87[EUR][1000 genomes]
rs12790740	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12792457	0.86[EUR][1000 genomes]
rs12794328	0.95[JPT][hapmap]
rs12794694	0.98[ASN][1000 genomes]
rs12795350	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12795880	0.86[EUR][1000 genomes]
rs12795968	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12796333	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12796675	0.98[ASN][1000 genomes]
rs12797620	0.98[ASN][1000 genomes]
rs12798288	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12798689	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs12798887	0.97[ASN][1000 genomes]
rs12802904	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12803364	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12803560	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12803803	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12803811	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12804031	0.87[EUR][1000 genomes]
rs12804791	0.86[EUR][1000 genomes]
rs12806219	0.86[EUR][1000 genomes]
rs1938972	0.94[EUR][1000 genomes]
rs1938978	0.87[EUR][1000 genomes]
rs1938979	0.87[EUR][1000 genomes]
rs1938980	0.87[EUR][1000 genomes]
rs1938987	0.98[EUR][1000 genomes]
rs1938989	0.93[EUR][1000 genomes]
rs1938990	0.91[EUR][1000 genomes]
rs1938991	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1938994	0.85[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939001	0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1943766	0.87[EUR][1000 genomes]
rs1943767	0.86[EUR][1000 genomes]
rs1943768	0.87[EUR][1000 genomes]
rs2155047	0.86[EUR][1000 genomes]
rs2155048	0.86[EUR][1000 genomes]
rs2508354	0.97[EUR][1000 genomes]
rs2508357	0.97[EUR][1000 genomes]
rs2508358	0.97[EUR][1000 genomes]
rs2508359	0.98[EUR][1000 genomes]
rs2508360	0.98[EUR][1000 genomes]
rs2508362	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508365	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508366	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508367	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508368	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508372	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508375	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513145	0.83[AFR][1000 genomes]
rs2513146	0.98[EUR][1000 genomes]
rs2513149	0.98[EUR][1000 genomes]
rs2513150	0.98[EUR][1000 genomes]
rs2513151	0.97[EUR][1000 genomes]
rs2513152	0.97[EUR][1000 genomes]
rs2513153	0.97[EUR][1000 genomes]
rs2513154	0.97[EUR][1000 genomes]
rs2513168	1.00[EUR][1000 genomes]
rs2513169	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513170	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513172	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513174	1.00[EUR][1000 genomes]
rs2513175	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513176	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513178	0.94[EUR][1000 genomes]
rs3016236	0.91[EUR][1000 genomes]
rs3018696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018699	0.86[EUR][1000 genomes]
rs34681694	0.91[EUR][1000 genomes]
rs35180268	0.99[EUR][1000 genomes]
rs35452558	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35508193	0.98[ASN][1000 genomes]
rs35539851	0.86[EUR][1000 genomes]
rs3949114	0.86[EUR][1000 genomes]
rs4388857	0.82[EUR][1000 genomes]
rs4520564	0.95[JPT][hapmap]
rs4582936	0.85[EUR][1000 genomes]
rs4754010	0.87[EUR][1000 genomes]
rs4754750	0.87[EUR][1000 genomes]
rs4754754	0.83[EUR][1000 genomes]
rs57177149	0.86[EUR][1000 genomes]
rs58151663	0.86[EUR][1000 genomes]
rs6590848	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs6590849	0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs6590850	0.87[EUR][1000 genomes]
rs6590854	0.99[EUR][1000 genomes]
rs6590855	0.91[EUR][1000 genomes]
rs66975288	0.98[EUR][1000 genomes]
rs7108099	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs7121801	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71462683	0.98[ASN][1000 genomes]
rs72980010	0.85[EUR][1000 genomes]
rs72980011	0.86[EUR][1000 genomes]
rs744021	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7481005	0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs7924880	0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs7924990	0.86[EUR][1000 genomes]
rs7925121	0.86[EUR][1000 genomes]
rs7925790	0.87[EUR][1000 genomes]
rs7926811	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7928176	0.86[EUR][1000 genomes]
rs7928303	0.86[EUR][1000 genomes]
rs7938688	0.98[EUR][1000 genomes]
rs7939471	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7940365	0.87[EUR][1000 genomes]
rs7940483	0.87[EUR][1000 genomes]
rs7948589	0.98[EUR][1000 genomes]
rs9633973	0.98[ASN][1000 genomes]
rs9633974	0.98[ASN][1000 genomes]
rs9633975	0.98[ASN][1000 genomes]
rs9734043	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9735005	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9787788	0.84[EUR][1000 genomes]
rs9795186	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	esv2753322	chr11:101052790-101311790	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv832247	chr11:101123483-101298787	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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
6	nsv468851	chr11:101268447-101330807	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv556132	chr11:101268447-101330807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2508371	MMP27	cis	parietal	SCAN
rs2508371	MMP1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101253600-101268600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:101253600-101278200	Weak transcription	Ovary	ovary
3	chr11:101257800-101271000	Weak transcription	Left Ventricle	heart
4	chr11:101268400-101269000	Enhancers	NHLF	lung
5	chr11:101268400-101269400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:101268400-101270000	Enhancers	NHDF-Ad	bronchial
7	chr11:101268400-101272200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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