Variant report

Variant	rs58813047
Chromosome Location	chr4:69662983-69662984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10000284	0.82[EUR][1000 genomes]
rs10010381	1.00[EUR][1000 genomes]
rs10010497	1.00[EUR][1000 genomes]
rs10028938	0.88[EUR][1000 genomes]
rs11722451	0.91[EUR][1000 genomes]
rs11725000	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725119	0.84[EUR][1000 genomes]
rs11725502	0.85[EUR][1000 genomes]
rs11726045	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731269	0.89[EUR][1000 genomes]
rs11734565	0.91[EUR][1000 genomes]
rs11736654	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737527	0.91[EUR][1000 genomes]
rs11737644	0.87[EUR][1000 genomes]
rs11737672	0.91[EUR][1000 genomes]
rs17146905	0.83[AMR][1000 genomes]
rs1902932	0.87[EUR][1000 genomes]
rs2175776	0.99[EUR][1000 genomes]
rs2331437	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331438	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331439	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331559	0.93[EUR][1000 genomes]
rs2926036	0.85[EUR][1000 genomes]
rs2926038	0.99[EUR][1000 genomes]
rs2942856	0.99[EUR][1000 genomes]
rs294759	0.93[EUR][1000 genomes]
rs294770	0.93[EUR][1000 genomes]
rs294775	0.84[EUR][1000 genomes]
rs294778	0.88[EUR][1000 genomes]
rs34100980	0.91[EUR][1000 genomes]
rs56068220	1.00[EUR][1000 genomes]
rs57504651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749966	0.88[EUR][1000 genomes]
rs61750900	0.88[EUR][1000 genomes]
rs6600854	0.88[EUR][1000 genomes]
rs6600855	0.88[EUR][1000 genomes]
rs6836520	0.87[EUR][1000 genomes]
rs72846859	0.91[EUR][1000 genomes]
rs72848040	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848056	0.99[EUR][1000 genomes]
rs7657958	0.88[EUR][1000 genomes]
rs7660491	0.84[EUR][1000 genomes]
rs7661050	0.88[EUR][1000 genomes]
rs7665996	0.88[EUR][1000 genomes]
rs7671312	0.91[EUR][1000 genomes]
rs7674919	0.88[EUR][1000 genomes]
rs7676146	0.88[EUR][1000 genomes]
rs7676529	0.87[EUR][1000 genomes]
rs7678526	0.84[EUR][1000 genomes]
rs7685333	0.88[EUR][1000 genomes]
rs7687748	0.80[EUR][1000 genomes]
rs7687951	0.88[EUR][1000 genomes]
rs7698940	0.88[EUR][1000 genomes]
rs835309	0.88[EUR][1000 genomes]
rs835315	0.88[EUR][1000 genomes]
rs835316	0.91[EUR][1000 genomes]
rs835317	0.88[EUR][1000 genomes]
rs844342	0.85[EUR][1000 genomes]
rs861340	0.84[EUR][1000 genomes]
rs9329034	0.97[EUR][1000 genomes]
rs9993124	0.91[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	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1013885	chr4:69592847-69667996	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv829961	chr4:69592847-69695467	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv594579	chr4:69597175-69665970	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1014042	chr4:69599853-69667996	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv594580	chr4:69629425-69706273	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv964275	chr4:69654105-69665543	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69662400-69663000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:69662400-69663800	Enhancers	Liver	Liver
3	chr4:69662800-69664000	Enhancers	HUES48 Cell Line	embryonic stem cell

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