Variant report

Variant	rs10244594
Chromosome Location	chr7:80588002-80588003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80587609..80589634-chr7:80597530..80599724,2	K562	blood:
2	chr7:80583982..80586370-chr7:80587302..80589894,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10215069	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10215246	0.84[AFR][1000 genomes]
rs10215337	0.86[AFR][1000 genomes]
rs10215451	0.87[AFR][1000 genomes]
rs10215608	0.84[AFR][1000 genomes]
rs10215609	0.84[AFR][1000 genomes]
rs10215716	0.82[AFR][1000 genomes]
rs10215723	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10215938	0.81[AFR][1000 genomes]
rs10216033	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10224258	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10231141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10243643	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252612	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs28376330	0.87[AFR][1000 genomes]
rs28377907	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635331	0.87[AFR][1000 genomes]
rs28872523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743446	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055586	0.86[AFR][1000 genomes]
rs56377260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57025586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083498	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57220140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57516492	0.84[AFR][1000 genomes]
rs57552810	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57888066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58255502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58297146	0.84[AFR][1000 genomes]
rs58739233	0.86[AFR][1000 genomes]
rs59021088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59251587	0.84[AFR][1000 genomes]
rs60182569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60539054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60720818	0.84[AFR][1000 genomes]
rs60766005	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60847825	0.84[AFR][1000 genomes]
rs61124178	0.84[AFR][1000 genomes]
rs73376678	0.87[EUR][1000 genomes]
rs73378531	0.81[AFR][1000 genomes]
rs73378533	0.84[AFR][1000 genomes]
rs73378553	0.82[AFR][1000 genomes]
rs73709388	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv888549	chr7:80553950-80652059	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv888550	chr7:80584388-80644661	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80573200-80589600	Weak transcription	NHLF	lung
2	chr7:80583600-80588800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:80586800-80588800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:80587000-80597000	Weak transcription	HSMM	muscle

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