Variant report

Variant	rs11150248
Chromosome Location	chr16:80202850-80202851
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	chr16:80194118..80196698-chr16:80201674..80203282,2	MCF-7	breast:
2	chr16:80201693..80203729-chr16:80204153..80206753,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11150249	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640391	0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11642380	0.85[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs11642712	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11647537	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11648337	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11649346	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11859592	0.91[ASN][1000 genomes]
rs11866127	0.86[ASN][1000 genomes]
rs12102804	0.85[EUR][1000 genomes]
rs12597962	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12926031	0.98[ASN][1000 genomes]
rs12926639	0.87[ASN][1000 genomes]
rs12928265	0.85[ASN][1000 genomes]
rs12928708	0.81[ASN][1000 genomes]
rs1382389	0.91[EUR][1000 genomes]
rs1478504	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17727704	0.98[ASN][1000 genomes]
rs17796063	0.82[ASN][1000 genomes]
rs1871209	0.84[EUR][1000 genomes]
rs1904184	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2008481	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2061792	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2169804	0.91[EUR][1000 genomes]
rs2169806	1.00[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs4300652	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4405565	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4889112	0.86[EUR][1000 genomes]
rs4889115	0.87[EUR][1000 genomes]
rs4889116	0.91[EUR][1000 genomes]
rs7186149	0.85[EUR][1000 genomes]
rs7189918	0.86[EUR][1000 genomes]
rs7191912	0.99[ASN][1000 genomes]
rs7193651	0.82[EUR][1000 genomes]
rs7193739	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7205467	0.86[EUR][1000 genomes]
rs8045772	0.87[EUR][1000 genomes]
rs8045952	0.87[EUR][1000 genomes]
rs8046518	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8047391	0.90[EUR][1000 genomes]
rs8061813	0.91[EUR][1000 genomes]
rs9673176	0.80[EUR][1000 genomes]
rs9673185	0.95[EUR][1000 genomes]
rs9926605	0.83[EUR][1000 genomes]
rs9930130	0.91[EUR][1000 genomes]
rs9940589	0.90[EUR][1000 genomes]
rs9944373	0.82[EUR][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	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	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11150248	VAT1L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80193600-80207600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:80199600-80207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80201600-80205200	Weak transcription	Fetal Kidney	kidney
4	chr16:80202400-80207800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80202400-80207800	Weak transcription	HSMM	muscle

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