Variant report

Variant	rs72830616
Chromosome Location	chr17:50855412-50855413
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:50845542..50847154-chr17:50852610..50855460,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11867961	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11870288	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11870792	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11871559	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12937040	0.84[EUR][1000 genomes]
rs1388733	0.84[EUR][1000 genomes]
rs1492218	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16951806	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16951817	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16952047	1.00[EUR][1000 genomes]
rs16952115	1.00[EUR][1000 genomes]
rs16952211	1.00[EUR][1000 genomes]
rs3848459	1.00[EUR][1000 genomes]
rs56180119	1.00[EUR][1000 genomes]
rs57265038	1.00[EUR][1000 genomes]
rs57374031	1.00[EUR][1000 genomes]
rs59914616	1.00[EUR][1000 genomes]
rs7215364	1.00[EUR][1000 genomes]
rs72826660	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72826664	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72828434	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72828445	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828450	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830641	1.00[EUR][1000 genomes]
rs72830651	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528447	chr17:50323521-51118173	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055189	chr17:50562395-50858462	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv917205	chr17:50569072-50856418	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1063448	chr17:50586897-50856553	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv543386	chr17:50586897-50856553	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1058871	chr17:50636576-51084535	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv543388	chr17:50636576-51084535	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv908614	chr17:50644300-50888949	Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1058064	chr17:50650659-51069119	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv543389	chr17:50650659-51069119	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv908615	chr17:50663355-50930169	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv575557	chr17:50816035-50944581	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3366040	chr17:50854303-50856901	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50854600-50856800	Enhancers	HUVEC	blood vessel

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