Variant report

Variant	rs2113223
Chromosome Location	chr16:71607915-71607916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71598013..71600115-chr16:71607152..71610493,3	K562	blood:
2	chr16:71604094..71609680-chr16:71609822..71614465,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260886	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000198650	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1058750	1.00[ASN][1000 genomes]
rs10852502	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10852503	1.00[ASN][1000 genomes]
rs11075894	1.00[ASN][1000 genomes]
rs11075898	1.00[ASN][1000 genomes]
rs11075904	1.00[ASN][1000 genomes]
rs11862723	1.00[ASN][1000 genomes]
rs12929547	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1364210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392484	1.00[ASN][1000 genomes]
rs1423983	1.00[ASN][1000 genomes]
rs2032918	1.00[ASN][1000 genomes]
rs2052584	1.00[ASN][1000 genomes]
rs2052585	1.00[ASN][1000 genomes]
rs2133773	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2247603	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2334880	1.00[ASN][1000 genomes]
rs4354946	1.00[ASN][1000 genomes]
rs4788548	1.00[ASN][1000 genomes]
rs4788550	1.00[ASN][1000 genomes]
rs4788553	1.00[ASN][1000 genomes]
rs4788557	1.00[ASN][1000 genomes]
rs4788810	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788813	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788820	1.00[ASN][1000 genomes]
rs4788822	1.00[ASN][1000 genomes]
rs4788823	1.00[ASN][1000 genomes]
rs4788828	1.00[ASN][1000 genomes]
rs4788830	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6499526	1.00[ASN][1000 genomes]
rs6499527	1.00[ASN][1000 genomes]
rs6499528	1.00[ASN][1000 genomes]
rs6499529	1.00[ASN][1000 genomes]
rs6499530	1.00[ASN][1000 genomes]
rs6499531	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6499534	1.00[ASN][1000 genomes]
rs6499538	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6499540	1.00[ASN][1000 genomes]
rs7187948	1.00[ASN][1000 genomes]
rs7188675	1.00[ASN][1000 genomes]
rs7190487	1.00[ASN][1000 genomes]
rs7193549	1.00[ASN][1000 genomes]
rs7195059	1.00[ASN][1000 genomes]
rs7202479	1.00[ASN][1000 genomes]
rs7204608	1.00[ASN][1000 genomes]
rs7204967	1.00[ASN][1000 genomes]
rs7204992	1.00[ASN][1000 genomes]
rs7206470	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	1.00[ASN][1000 genomes]
rs8062188	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs889568	1.00[ASN][1000 genomes]
rs9635524	1.00[ASN][1000 genomes]
rs979790	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9888756	1.00[ASN][1000 genomes]
rs9929840	1.00[AFR][1000 genomes]
rs9929985	1.00[ASN][1000 genomes]
rs9931074	1.00[ASN][1000 genomes]
rs9934301	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9937511	1.00[ASN][1000 genomes]
rs9939458	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2113223	PHLPP2	cis	Muscle Skeletal	GTEx
rs2113223	MARVELD3	cis	Skin Sun Exposed Lower leg	GTEx
rs2113223	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71602400-71615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:71607000-71608000	Enhancers	A549	lung
3	chr16:71607200-71608200	Flanking Active TSS	Liver	Liver
4	chr16:71607400-71612200	Enhancers	HepG2	liver
5	chr16:71607800-71608000	Enhancers	Sigmoid Colon	Sigmoid Colon

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