Variant report

Variant	rs7196943
Chromosome Location	chr16:69592449-69592450
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69592213..69594208-chr16:69598623..69601343,2	K562	blood:
2	chr16:69458413..69461284-chr16:69590262..69592868,2	MCF-7	breast:
3	chr16:69590898..69593139-chr16:69596176..69598406,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223109	Chromatin interaction
ENSG00000102908	Chromatin interaction
ENSG00000103018	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10454066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10500551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10852457	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10852458	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11075727	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075730	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11639947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11641050	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11641233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11642030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11642115	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11643240	0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11643530	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11646884	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12232410	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12447326	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12447883	0.82[AMR][1000 genomes]
rs12449005	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12595869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs12595878	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12596823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1437135	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1437136	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16958970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16959025	1.00[CEU][hapmap]
rs1800566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs2118220	0.83[EUR][1000 genomes]
rs2161631	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2217950	0.83[EUR][1000 genomes]
rs2287970	0.88[ASN][1000 genomes]
rs2361838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs3169315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3743673	0.95[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes]
rs3885612	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985518	1.00[CEU][hapmap]
rs55751101	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56256040	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56316408	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60010276	0.81[EUR][1000 genomes]
rs60099379	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60472033	0.84[EUR][1000 genomes]
rs6499239	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs7187653	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7190652	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7194753	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7198242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7200935	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs74026882	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8045142	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8045682	1.00[CEU][hapmap]
rs8045705	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8046314	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs8047885	0.81[EUR][1000 genomes]
rs8052086	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8053080	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8054096	0.80[EUR][1000 genomes]
rs8060588	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs920191	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9788837	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9921045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9929720	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9933526	0.81[AMR][1000 genomes]
rs9940548	0.84[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	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7196943	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69574600-69597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:69589800-69596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:69590000-69597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:69592400-69592800	Enhancers	GM12878-XiMat	blood
5	chr16:69592400-69597600	Enhancers	HepG2	liver

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