Variant report

Variant	rs9506213
Chromosome Location	chr13:30225449-30225450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17625129	1.00[CEU][hapmap]
rs2263207	0.92[ASN][1000 genomes]
rs280905	0.92[ASN][1000 genomes]
rs280906	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280907	0.93[ASN][1000 genomes]
rs280908	0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs489679	0.93[ASN][1000 genomes]
rs524368	0.93[ASN][1000 genomes]
rs529739	0.93[ASN][1000 genomes]
rs535141	0.93[ASN][1000 genomes]
rs538385	0.92[ASN][1000 genomes]
rs550984	0.93[ASN][1000 genomes]
rs563630	0.93[ASN][1000 genomes]
rs565279	0.89[ASN][1000 genomes]
rs570095	0.95[JPT][hapmap]
rs571899	0.95[JPT][hapmap]
rs590377	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs61947189	0.85[ASN][1000 genomes]
rs630273	0.95[JPT][hapmap]
rs648326	0.93[ASN][1000 genomes]
rs7991022	1.00[CEU][hapmap]
rs819400	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs819401	1.00[JPT][hapmap]
rs9506207	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9506214	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506215	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506220	0.83[EUR][1000 genomes]
rs9508515	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9508524	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9551710	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9551713	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551714	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528336	chr13:30194288-30226498	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv980	chr13:30200197-30236915	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv498808	chr13:30215837-30228124	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9506213	SHISA2	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30220800-30226800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:30222400-30229400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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