Variant report

Variant	rs10468265
Chromosome Location	chr16:71476943-71476944
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	chr16:71475497..71477141-chr16:71494583..71496485,2	MCF-7	breast:
2	chr16:71475611..71477671-chr16:71486967..71489095,2	K562	blood:

Variant related genes	Relation type
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11866859	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12325234	0.90[CEU][hapmap]
rs12444714	0.90[CEU][hapmap]
rs12918320	0.90[CEU][hapmap]
rs12919092	0.90[CEU][hapmap]
rs13336809	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972266	1.00[ASN][1000 genomes]
rs16972805	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16972808	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973000	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16973112	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973190	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973286	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1804984	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2052873	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886947	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258624	1.00[JPT][hapmap]
rs56222754	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57821244	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59364668	0.83[EUR][1000 genomes]
rs61171207	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499520	0.90[CEU][hapmap]
rs7188021	1.00[ASN][1000 genomes]
rs7197127	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72791971	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72791974	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72795864	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795867	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72795869	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795881	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797728	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8044168	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8049040	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8050135	1.00[ASN][1000 genomes]
rs8051439	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056735	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940485	1.00[ASN][1000 genomes]
rs9989376	0.85[EUR][1000 genomes]
rs9989377	0.94[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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10468265	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx
rs10468265	PHLPP2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71474800-71478400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71475000-71479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:71476400-71478200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:71476600-71478000	ZNF genes & repeats	Fetal Stomach	stomach
5	chr16:71476800-71482000	Weak transcription	HepG2	liver

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