Variant report

Variant	rs480672
Chromosome Location	chr15:76781930-76781931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs157760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157761	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157768	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157769	1.00[JPT][hapmap]
rs157777	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs157779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157789	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1810348	0.90[CHB][hapmap]
rs182253	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs190771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078437	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2460161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2469554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs283796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs283802	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs284886	0.87[ASN][1000 genomes]
rs284898	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs284902	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs284903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs284904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs284905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs284907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2957560	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2957607	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs387321	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs403656	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs438915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636879	0.81[CHB][hapmap]
rs4886490	0.90[CHB][hapmap]
rs4886491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4886492	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs494268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs506000	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8031378	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8031672	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs874224	0.90[CHB][hapmap]
rs9806402	0.86[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	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs480672	ISL2	cis	Whole Blood	GTEx
rs480672	RP11-685G9.2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76725800-76812600	Weak transcription	Left Ventricle	heart
2	chr15:76763000-76795000	Weak transcription	Primary B cells from cord blood	blood

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