Variant report

Variant	rs72830651
Chromosome Location	chr17:50900684-50900685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11867961	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11870288	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11870792	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11871559	1.00[EUR][1000 genomes]
rs1492218	0.84[EUR][1000 genomes]
rs16951806	0.84[EUR][1000 genomes]
rs16951817	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	0.83[AMR][1000 genomes];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	0.84[EUR][1000 genomes]
rs72826664	0.84[EUR][1000 genomes]
rs72828434	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72828445	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72828450	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72830616	1.00[EUR][1000 genomes]
rs72830641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50900000-50905000	Enhancers	Liver	Liver
2	chr17:50900400-50901000	ZNF genes & repeats	HepG2	liver
3	chr17:50900600-50900800	Enhancers	Psoas Muscle	Psoas
4	chr17:50900600-50900800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr17:50900600-50900800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr17:50900600-50901800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr17:50900600-50902800	Enhancers	Fetal Intestine Large	intestine

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