Variant report

Variant	rs8028630
Chromosome Location	chr15:54875471-54875472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10152437	0.83[JPT][hapmap]
rs10152571	0.82[AMR][1000 genomes]
rs10152907	0.86[CHB][hapmap]
rs11071087	0.83[MEX][hapmap]
rs11071088	0.87[AMR][1000 genomes]
rs11071092	0.80[ASN][1000 genomes]
rs11639014	0.83[MEX][hapmap]
rs12437724	0.82[GIH][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs12900512	0.86[AMR][1000 genomes]
rs12909682	0.88[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12914472	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12916626	0.83[MEX][hapmap]
rs1402111	0.92[JPT][hapmap]
rs16974712	0.85[JPT][hapmap]
rs16974861	0.92[CEU][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1818705	0.80[CEU][hapmap]
rs1850998	0.84[ASN][1000 genomes]
rs1851001	0.87[AMR][1000 genomes]
rs1851007	0.83[AMR][1000 genomes]
rs1851008	0.86[AMR][1000 genomes]
rs2414325	0.81[CHB][hapmap];0.80[CHD][hapmap]
rs2414326	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs2553218	0.92[CEU][hapmap]
rs2553222	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2553223	0.92[CEU][hapmap];0.89[GIH][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2553227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2681953	0.83[ASN][1000 genomes]
rs2681954	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2681956	0.95[CEU][hapmap];0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs589611	0.89[MEX][hapmap]
rs6493690	0.83[AMR][1000 genomes]
rs7163424	0.92[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7164826	0.92[JPT][hapmap]
rs7180226	0.92[JPT][hapmap]
rs734954	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs746321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023595	0.80[CEU][hapmap]
rs8023918	0.80[CEU][hapmap]
rs8040060	0.88[CEU][hapmap]
rs8040774	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs8041282	0.83[AMR][1000 genomes]
rs8042341	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9302181	0.83[MEX][hapmap]
rs939389	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs939390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920919	0.86[CHB][hapmap];0.80[CHD][hapmap]

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	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1038660	chr15:54756184-55039913	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv904236	chr15:54820897-54912439	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1039548	chr15:54856965-54914519	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8028630	KIAA1370	cis	parietal	SCAN
rs8028630	UNC13C	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54870000-54879800	Weak transcription	Aorta	Aorta
2	chr15:54871200-54882400	Weak transcription	Fetal Lung	lung
3	chr15:54873800-54880800	Strong transcription	Fetal Heart	heart
4	chr15:54875200-54875600	Weak transcription	GM12878-XiMat	blood

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