Variant report

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17625129	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs2078408	0.84[YRI][hapmap]
rs2263207	0.86[ASN][1000 genomes]
rs280905	0.86[ASN][1000 genomes]
rs280906	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280907	0.86[ASN][1000 genomes]
rs280908	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs489679	0.86[ASN][1000 genomes]
rs524368	0.86[ASN][1000 genomes]
rs529739	0.86[ASN][1000 genomes]
rs535141	0.86[ASN][1000 genomes]
rs538385	0.86[ASN][1000 genomes]
rs550984	0.86[ASN][1000 genomes]
rs563630	0.86[ASN][1000 genomes]
rs565279	0.82[ASN][1000 genomes]
rs570095	0.90[JPT][hapmap]
rs571899	0.90[JPT][hapmap]
rs590377	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs630273	0.90[JPT][hapmap]
rs648326	0.86[ASN][1000 genomes]
rs7991022	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs819103	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs819400	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs819401	0.94[JPT][hapmap]
rs9506207	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9506213	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9506214	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9506215	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9506220	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9508515	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9551710	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9551713	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9551714	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9508524	SHISA2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30233600-30238200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr13:30233800-30249800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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