Variant report

Variant	rs57219003
Chromosome Location	chr5:14998464-14998465
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14972075..14974642-chr5:14995746..14998492,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10044822	0.89[ASN][1000 genomes]
rs10044904	0.87[ASN][1000 genomes]
rs10044907	0.89[ASN][1000 genomes]
rs10044908	0.89[ASN][1000 genomes]
rs10513194	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10866509	0.82[EUR][1000 genomes]
rs11744215	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16903773	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16903778	0.88[ASN][1000 genomes]
rs62356077	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62356079	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62356081	0.84[EUR][1000 genomes]
rs6864877	0.87[ASN][1000 genomes]
rs6867275	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6877954	0.88[ASN][1000 genomes]
rs6878138	0.86[ASN][1000 genomes]
rs6878288	0.88[ASN][1000 genomes]
rs6878430	0.88[ASN][1000 genomes]
rs73053946	0.87[ASN][1000 genomes]
rs73053947	0.87[ASN][1000 genomes]
rs73053951	0.88[ASN][1000 genomes]
rs73053957	0.88[ASN][1000 genomes]
rs7341022	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7341067	0.86[ASN][1000 genomes]
rs7341168	0.88[ASN][1000 genomes]
rs7727179	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9312876	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9686327	0.89[EUR][1000 genomes];0.89[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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv524142	chr5:14986700-15018537	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv20919	chr5:14995242-15000583	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14993800-14999400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:14994600-15008600	Weak transcription	Placenta	Placenta
3	chr5:14996600-15000200	Enhancers	Primary B cells from cord blood	blood
4	chr5:14996600-15000200	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:14996600-15000600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:14997400-15000000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:14997600-14998800	ZNF genes & repeats	GM12878-XiMat	blood
8	chr5:14998400-14998800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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