Variant report

Variant	rs4723951
Chromosome Location	chr7:40363735-40363736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40362786..40364533-chr7:40364996..40369227,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10227645	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256660	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261478	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11764628	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11771964	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11772072	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12669999	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17171685	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2329774	1.00[ASN][1000 genomes]
rs2329775	1.00[ASN][1000 genomes]
rs34398005	0.83[EUR][1000 genomes]
rs3857747	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4286851	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332041	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4360204	0.91[EUR][1000 genomes]
rs4534056	1.00[ASN][1000 genomes]
rs4613890	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55803016	1.00[ASN][1000 genomes]
rs56089082	1.00[ASN][1000 genomes]
rs56133304	1.00[ASN][1000 genomes]
rs57393082	1.00[ASN][1000 genomes]
rs58612672	0.88[AMR][1000 genomes]
rs59070247	1.00[ASN][1000 genomes]
rs60288145	1.00[ASN][1000 genomes]
rs60631055	1.00[ASN][1000 genomes]
rs60765497	1.00[ASN][1000 genomes]
rs6462979	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73688044	1.00[ASN][1000 genomes]
rs73688046	1.00[ASN][1000 genomes]
rs73688047	1.00[ASN][1000 genomes]
rs73688050	1.00[ASN][1000 genomes]
rs73688052	1.00[ASN][1000 genomes]
rs73688056	1.00[ASN][1000 genomes]
rs73688058	1.00[ASN][1000 genomes]
rs73688060	1.00[ASN][1000 genomes]
rs73688062	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1033564	chr7:40273845-40417886	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv887986	chr7:40311382-40425140	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv949540	chr7:40321357-40528147	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv520748	chr7:40332518-40425140	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1017909	chr7:40337109-40427634	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 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	chr7:40356200-40366600	Weak transcription	Liver	Liver
2	chr7:40356600-40365600	Weak transcription	HSMM	muscle
3	chr7:40363200-40372000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40363400-40363800	Enhancers	Fetal Heart	heart

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