Variant report

Variant	rs530011
Chromosome Location	chr6:62922848-62922849
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10945156	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10945189	0.90[EUR][1000 genomes]
rs10945226	0.81[EUR][1000 genomes]
rs1103569	0.89[EUR][1000 genomes]
rs11758619	0.81[EUR][1000 genomes]
rs1204539	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1204540	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1204543	0.84[EUR][1000 genomes]
rs1204544	0.84[EUR][1000 genomes]
rs12528424	0.81[EUR][1000 genomes]
rs12660844	0.90[EUR][1000 genomes]
rs12662273	0.81[EUR][1000 genomes]
rs12663464	0.81[EUR][1000 genomes]
rs16882876	0.93[EUR][1000 genomes]
rs16883133	0.90[EUR][1000 genomes]
rs16884023	0.81[EUR][1000 genomes]
rs16884169	0.81[EUR][1000 genomes]
rs1688991	0.90[EUR][1000 genomes]
rs169662	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs176600	0.81[EUR][1000 genomes]
rs176603	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176604	0.94[EUR][1000 genomes]
rs176609	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176610	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176612	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs176616	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176618	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176619	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176620	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs176621	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176622	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs185974	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs208983	0.82[EUR][1000 genomes]
rs208987	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs208989	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs208991	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs208993	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs208995	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs208996	0.84[EUR][1000 genomes]
rs208997	0.84[EUR][1000 genomes]
rs208998	0.84[EUR][1000 genomes]
rs209003	0.84[EUR][1000 genomes]
rs209004	0.84[EUR][1000 genomes]
rs209005	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs209007	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs209009	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs209010	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs209012	0.87[EUR][1000 genomes]
rs209013	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2345330	0.80[EUR][1000 genomes]
rs2345331	0.81[EUR][1000 genomes]
rs2495266	0.81[EUR][1000 genomes]
rs2495267	0.81[EUR][1000 genomes]
rs2639412	0.81[EUR][1000 genomes]
rs2639413	0.81[EUR][1000 genomes]
rs2639414	0.81[EUR][1000 genomes]
rs2639415	0.81[EUR][1000 genomes]
rs2679573	0.93[EUR][1000 genomes]
rs2814648	0.81[EUR][1000 genomes]
rs2814649	0.81[EUR][1000 genomes]
rs2814650	0.81[EUR][1000 genomes]
rs2814651	0.81[EUR][1000 genomes]
rs2814652	0.81[EUR][1000 genomes]
rs2814654	0.81[EUR][1000 genomes]
rs2814655	0.83[EUR][1000 genomes]
rs2814680	0.81[EUR][1000 genomes]
rs2814681	0.81[EUR][1000 genomes]
rs2842802	0.81[EUR][1000 genomes]
rs2842809	0.81[EUR][1000 genomes]
rs2842810	0.81[EUR][1000 genomes]
rs2842812	0.81[EUR][1000 genomes]
rs396074	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs485617	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs486719	0.93[EUR][1000 genomes]
rs492902	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs494833	0.90[EUR][1000 genomes]
rs516904	0.90[EUR][1000 genomes]
rs517862	0.88[ASN][1000 genomes]
rs524169	0.90[EUR][1000 genomes]
rs541351	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs549603	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs550126	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs551082	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs551124	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs551837	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs555222	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs567689	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs567865	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs573454	0.93[EUR][1000 genomes]
rs574337	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs577280	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs577542	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs590059	0.90[EUR][1000 genomes]
rs591353	0.90[EUR][1000 genomes]
rs591366	0.90[EUR][1000 genomes]
rs603987	0.90[EUR][1000 genomes]
rs606199	0.90[EUR][1000 genomes]
rs62414796	0.93[EUR][1000 genomes]
rs62414811	0.90[EUR][1000 genomes]
rs62416568	0.81[EUR][1000 genomes]
rs62416569	0.81[EUR][1000 genomes]
rs6908177	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6918262	0.90[EUR][1000 genomes]
rs6934952	0.93[EUR][1000 genomes]
rs73488982	0.93[EUR][1000 genomes]
rs7742126	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7743214	0.90[EUR][1000 genomes]
rs7750698	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7770793	0.93[EUR][1000 genomes]
rs7772645	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs855409	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs855411	0.90[EUR][1000 genomes]
rs855412	0.93[EUR][1000 genomes]
rs855413	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs855414	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs876854	0.81[EUR][1000 genomes]
rs9294829	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9294844	0.90[EUR][1000 genomes]
rs9446114	0.88[EUR][1000 genomes]
rs9446135	0.91[EUR][1000 genomes]
rs9446139	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9446154	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs9454804	0.93[EUR][1000 genomes]
rs9454831	0.90[EUR][1000 genomes]
rs9454832	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9454834	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9454844	0.90[EUR][1000 genomes]
rs9454845	0.90[EUR][1000 genomes]
rs9454859	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs9918343	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916376	chr6:61967253-62927185	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv603316	chr6:62600980-62927514	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv538268	chr6:62900450-62928906	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
4	nsv1017249	chr6:62906813-63317382	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1020677	chr6:62911584-63309663	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62921600-62929600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:62922800-62923200	Active TSS	A549	lung

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