Variant report

Variant	rs9889013
Chromosome Location	chr16:80247432-80247433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80242845..80245551-chr16:80246553..80248755,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10514488	0.97[EUR][1000 genomes]
rs11648758	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11648961	0.80[ASN][1000 genomes]
rs12149733	0.97[EUR][1000 genomes]
rs13330923	0.91[ASN][1000 genomes]
rs13380441	0.97[EUR][1000 genomes]
rs13380491	0.81[EUR][1000 genomes]
rs1564219	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1564220	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1842025	0.90[EUR][1000 genomes]
rs1904188	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2069012	0.97[EUR][1000 genomes]
rs2169806	0.85[CEU][hapmap];0.80[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs2169807	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28615887	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28797541	0.92[ASN][1000 genomes]
rs34338989	0.96[EUR][1000 genomes]
rs4889121	0.87[ASN][1000 genomes]
rs8043986	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8054317	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8060563	0.89[ASN][1000 genomes]
rs9926004	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9934453	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9939179	0.92[ASN][1000 genomes]
rs9944373	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055228	chr16:80207546-80378842	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1064093	chr16:80208443-80333301	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv542985	chr16:80208443-80333301	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1063466	chr16:80227628-80360463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv906996	chr16:80230224-80334010	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9889013	BCAR1	cis	parietal	SCAN
rs9889013	VAT1L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80242600-80260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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