Variant report

Variant	rs6723918
Chromosome Location	chr2:56004139-56004140
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	chr2:56004031..56006518-chr2:56068498..56070427,2	MCF-7	breast:
2	chr2:56001464..56004424-chr2:56185372..56187665,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11676678	0.95[ASN][1000 genomes]
rs11684982	0.95[ASN][1000 genomes]
rs11693187	0.91[ASN][1000 genomes]
rs11694759	0.84[ASN][1000 genomes]
rs11694790	0.95[ASN][1000 genomes]
rs11887339	0.84[ASN][1000 genomes]
rs12614845	0.95[ASN][1000 genomes]
rs13404193	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367228	0.82[CHB][hapmap]
rs1430191	0.82[CHB][hapmap]
rs1430198	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430199	0.95[ASN][1000 genomes]
rs1430200	0.95[ASN][1000 genomes]
rs1465624	0.95[ASN][1000 genomes]
rs1465625	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1961386	0.82[AMR][1000 genomes]
rs3791676	0.82[CHB][hapmap]
rs4233963	0.90[ASN][1000 genomes]
rs4671259	0.81[ASN][1000 genomes]
rs4672069	0.84[ASN][1000 genomes]
rs6742316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6747885	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6753814	0.82[CHB][hapmap]
rs6761334	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7560508	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9309269	0.95[ASN][1000 genomes]
rs9309270	0.88[ASN][1000 genomes]
rs934274	0.87[ASN][1000 genomes]
rs934275	0.87[ASN][1000 genomes]
rs934276	0.95[ASN][1000 genomes]
rs934277	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv999962	chr2:55976574-56011517	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv997683	chr2:55976574-56013875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv431080	chr2:55988293-56011517	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
2	chr2:56000000-56005000	Weak transcription	A549	lung
3	chr2:56000000-56005200	Weak transcription	Hela-S3	cervix
4	chr2:56002400-56006600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:56002800-56005400	Weak transcription	HUVEC	blood vessel
6	chr2:56003400-56004200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:56003400-56004400	Enhancers	NHEK	skin
8	chr2:56003600-56004800	Enhancers	HMEC	breast
9	chr2:56003600-56007200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:56004000-56006000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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