Variant report

Variant	rs12199685
Chromosome Location	chr6:27323486-27323487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27283444..27285555-chr6:27322877..27325059,2	K562	blood:
2	chr6:27322944..27325251-chr6:27328933..27331710,2	K562	blood:
3	chr6:27318366..27321145-chr6:27323199..27326196,2	K562	blood:
4	chr6:27322702..27324255-chr6:27337626..27339716,2	K562	blood:
5	chr6:27323013..27326635-chr6:27341083..27343749,3	K562	blood:

Variant related genes	Relation type
ENSG00000124613	Chromatin interaction
ENSG00000204789	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10456051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10456355	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12189640	1.00[AMR][1000 genomes]
rs12191414	0.83[EUR][1000 genomes]
rs12191649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12192560	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12193557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12194341	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12194842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12195783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12196452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12196970	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12199806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12202956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12204953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12205044	1.00[AMR][1000 genomes]
rs12209174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12209905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12211931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12212348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12212389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12212632	1.00[AMR][1000 genomes]
rs12213471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12213533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12215289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12215353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12215386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12215878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12374607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12374649	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28410967	0.87[EUR][1000 genomes]
rs56099947	0.84[AMR][1000 genomes]
rs60888769	0.84[AMR][1000 genomes]
rs62617138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71546544	0.84[AMR][1000 genomes]
rs72839448	1.00[AFR][1000 genomes]
rs72839451	0.87[EUR][1000 genomes]
rs72839468	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72839469	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72839470	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72839471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72839474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72839479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72841397	0.84[AMR][1000 genomes]
rs72841398	0.84[AMR][1000 genomes]
rs72841399	0.84[AMR][1000 genomes]
rs72841400	0.84[AMR][1000 genomes]
rs72843151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72843177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72843191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845006	0.84[AMR][1000 genomes]
rs72845008	0.84[AMR][1000 genomes]
rs72845011	0.84[AMR][1000 genomes]
rs72845012	0.84[AMR][1000 genomes]
rs72845025	0.84[AMR][1000 genomes]
rs72845027	0.84[AMR][1000 genomes]
rs72845028	0.84[AMR][1000 genomes]
rs72845030	0.84[AMR][1000 genomes]
rs72845031	0.84[AMR][1000 genomes]
rs72845208	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72845232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9348763	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9368509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9379975	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9393814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27316800-27335400	Weak transcription	Pancreas	Pancrea

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