Variant report

Variant	rs72839471
Chromosome Location	chr6:27316959-27316960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27305160..27309365-chr6:27316148..27317927,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:64)

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]
rs12199685	1.00[AFR][1000 genomes];1.00[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]
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]
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:3 , 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
3	nsv883507	chr6:27279982-27318836	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27301400-27321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:27313000-27318200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:27316000-27317000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
4	chr6:27316200-27317200	Weak transcription	Ovary	ovary
5	chr6:27316600-27317000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:27316800-27335400	Weak transcription	Pancreas	Pancrea

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