Variant report

Variant	rs4788813
Chromosome Location	chr16:71625572-71625573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71619005..71622158-chr16:71624497..71628582,3	MCF-7	breast:
2	chr16:71610910..71613434-chr16:71625307..71628011,2	MCF-7	breast:
3	chr16:71620059..71623986-chr16:71624555..71628126,4	K562	blood:
4	chr16:71617743..71620944-chr16:71623510..71629650,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198650	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1058750	1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852502	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852503	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075893	0.81[EUR][1000 genomes]
rs11075894	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075898	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075901	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs11075904	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11862723	0.81[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12929547	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1364210	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392484	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1423983	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032918	0.81[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052584	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052585	0.86[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113223	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133773	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2247603	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2334880	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354946	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788548	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788550	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788553	1.00[ASN][1000 genomes]
rs4788557	1.00[ASN][1000 genomes]
rs4788810	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788820	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788822	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788823	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788828	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4788830	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499526	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499527	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499528	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499529	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499530	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499531	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6499534	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6499538	0.85[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6499540	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7186112	1.00[ASN][1000 genomes]
rs7187948	1.00[ASN][1000 genomes]
rs7188675	0.81[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190487	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193549	0.81[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195059	0.81[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202479	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7204608	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204967	1.00[ASN][1000 genomes]
rs7204992	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206470	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7359478	1.00[ASN][1000 genomes]
rs8044144	0.83[ASN][1000 genomes]
rs8051968	1.00[ASN][1000 genomes]
rs8052910	1.00[ASN][1000 genomes]
rs8053186	1.00[ASN][1000 genomes]
rs8053745	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058297	0.85[EUR][1000 genomes]
rs8062188	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889568	1.00[ASN][1000 genomes]
rs9635524	1.00[ASN][1000 genomes]
rs979790	0.81[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888756	1.00[ASN][1000 genomes]
rs9929840	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs9929985	1.00[ASN][1000 genomes]
rs9930015	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs9931074	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934301	0.86[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9937511	1.00[ASN][1000 genomes]
rs9939458	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4788813	MARVELD3	cis	Skin Sun Exposed Lower leg	GTEx
rs4788813	PHLPP2	cis	Muscle Skeletal	GTEx
rs4788813	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71624200-71627000	Enhancers	Liver	Liver
2	chr16:71624200-71627200	Enhancers	HepG2	liver

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