Variant report

Variant	rs28562519
Chromosome Location	chr8:111815191-111815192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10505150	1.00[EUR][1000 genomes]
rs16880962	1.00[EUR][1000 genomes]
rs16880978	1.00[EUR][1000 genomes]
rs28548303	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56144217	1.00[EUR][1000 genomes]
rs56409630	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61260614	1.00[EUR][1000 genomes]
rs73316618	1.00[EUR][1000 genomes]
rs73317274	1.00[EUR][1000 genomes]
rs73332965	1.00[EUR][1000 genomes]
rs73332966	1.00[EUR][1000 genomes]
rs73332970	1.00[EUR][1000 genomes]
rs73700909	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700910	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700911	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700913	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700914	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702315	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702317	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702325	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702869	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702873	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702874	1.00[EUR][1000 genomes]
rs73702875	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828396	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027659	chr8:111585843-111875753	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831423	chr8:111672801-111869818	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891293	chr8:111704563-111822043	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1031245	chr8:111716585-111875753	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv891294	chr8:111754075-112163801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1032766	chr8:111779352-111995438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3446819	chr8:111792825-111817060	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111788600-111826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:111814600-111815200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:111814600-111815200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:111814800-111815400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:111815000-111815200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:111815000-111815400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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