Variant report

Variant	rs12909682
Chromosome Location	chr15:54867965-54867966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:54867084..54868948-chr15:54872476..54874542,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10152571	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10468008	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11071087	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap]
rs11071088	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11639005	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11639014	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.90[ASN][1000 genomes]
rs12437724	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12443186	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12900512	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12908706	0.88[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12914472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12916626	0.95[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs16974753	0.95[CHB][hapmap]
rs16974859	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs16974861	0.96[CEU][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1818705	0.92[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1851001	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851007	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1851008	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1973747	0.92[ASN][1000 genomes]
rs2056341	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2056342	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2553218	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs2553222	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2553223	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2553227	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2681954	0.88[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap]
rs2681956	0.82[CEU][hapmap]
rs2681969	0.90[ASN][1000 genomes]
rs34301708	0.83[ASN][1000 genomes]
rs589611	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap]
rs6493690	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7163424	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs746321	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8023595	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8023918	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[ASN][1000 genomes]
rs8028630	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]
rs8040060	0.92[CEU][hapmap];0.90[JPT][hapmap]
rs8040774	0.92[CEU][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap]
rs8041282	0.88[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8042341	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9302181	0.95[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs939390	0.90[AMR][1000 genomes];0.84[EUR][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12909682	KIAA1370	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54811000-54869600	Weak transcription	Aorta	Aorta
2	chr15:54867600-54871200	Enhancers	Fetal Lung	lung

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