Variant report

Variant	rs7720050
Chromosome Location	chr5:27172009-27172010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:27170828..27173220-chr5:27216405..27218004,2	K562	blood:
2	chr5:27167532..27169092-chr5:27170978..27173279,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs4259141	0.85[ASN][1000 genomes]
rs4331861	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4382124	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392592	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429813	1.00[EUR][1000 genomes]
rs4487458	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496679	0.98[EUR][1000 genomes]
rs4518345	0.99[EUR][1000 genomes]
rs4555745	0.85[ASN][1000 genomes]
rs4597930	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4604162	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604163	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640754	1.00[EUR][1000 genomes]
rs56954447	1.00[EUR][1000 genomes]
rs61673971	0.99[EUR][1000 genomes]
rs66712717	0.90[ASN][1000 genomes]
rs72739211	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740668	1.00[EUR][1000 genomes]
rs72740669	1.00[EUR][1000 genomes]
rs72740674	1.00[EUR][1000 genomes]
rs72740675	1.00[EUR][1000 genomes]
rs72740677	1.00[EUR][1000 genomes]
rs72740679	1.00[EUR][1000 genomes]
rs72740681	1.00[EUR][1000 genomes]
rs72740682	1.00[EUR][1000 genomes]
rs72740683	1.00[EUR][1000 genomes]
rs72740686	0.99[EUR][1000 genomes]
rs72740690	1.00[EUR][1000 genomes]
rs72740691	1.00[EUR][1000 genomes]
rs7701038	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714993	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723205	0.97[EUR][1000 genomes]
rs7724168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv917332	chr5:26620698-27232713	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv868856	chr5:26789778-27321390	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv881006	chr5:27010686-27231314	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3450425	chr5:27134073-27323407	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881286	chr5:27135351-27770554	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1025795	chr5:27143283-27199590	Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1017638	chr5:27143283-27206186	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27170800-27173200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:27171000-27173200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:27171000-27173800	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:27171800-27172200	Enhancers	Fetal Heart	heart

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