Variant report

Variant	rs6887212
Chromosome Location	chr5:40894564-40894565
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40887409..40889987-chr5:40893974..40896767,2	MCF-7	breast:
2	chr5:40832872..40835658-chr5:40893806..40896562,2	MCF-7	breast:
3	chr5:40832193..40835504-chr5:40894325..40897011,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212296	Chromatin interaction
ENSG00000145592	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10067114	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10071209	0.94[ASN][1000 genomes]
rs10472345	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1376178	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1697938	0.89[ASN][1000 genomes]
rs2122569	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2443035	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2443040	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2459465	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2459467	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2597746	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs323565	0.80[ASN][1000 genomes]
rs324063	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs324066	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs324067	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs324068	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs324072	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs364443	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs420220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438652	0.90[ASN][1000 genomes]
rs6861054	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs837383	0.87[ASN][1000 genomes]
rs837388	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40885200-40895400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40893800-40894600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:40893800-40894800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:40893800-40895200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:40894000-40894600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:40894200-40895400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:40894400-40894800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:40894400-40895600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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