Variant report

Variant	rs62228684
Chromosome Location	chr21:15683455-15683456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15677584..15679731-chr21:15681094..15683819,2	MCF-7	breast:
2	chr21:15681814..15683687-chr21:15754179..15756305,2	MCF-7	breast:
3	chr21:15637216..15639622-chr21:15681292..15683772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1297125	0.90[ASN][1000 genomes]
rs17002266	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822560	1.00[ASN][1000 genomes]
rs62227535	0.95[ASN][1000 genomes]
rs62228672	1.00[ASN][1000 genomes]
rs62228673	1.00[ASN][1000 genomes]
rs62228674	1.00[ASN][1000 genomes]
rs62228675	1.00[ASN][1000 genomes]
rs62228676	1.00[ASN][1000 genomes]
rs62228677	1.00[ASN][1000 genomes]
rs62228678	1.00[ASN][1000 genomes]
rs62228679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228682	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228685	1.00[ASN][1000 genomes]
rs62228686	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228687	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228727	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281177	1.00[ASN][1000 genomes]
rs909257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066930	chr21:15626232-15724630	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv459095	chr21:15626660-15698808	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv587044	chr21:15626660-15698808	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv470878	chr21:15630812-15698808	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr21:15678800-15688600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr21:15679200-15684600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr21:15681000-15685200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:15681200-15691000	Weak transcription	Primary hematopoietic stem cells	blood

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