Variant report

Variant	rs12916626
Chromosome Location	chr15:54840969-54840970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10152437	0.96[CEU][hapmap]
rs10468008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11071072	0.82[CEU][hapmap]
rs11071087	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11636573	0.80[CEU][hapmap]
rs11639005	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs11639014	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12437724	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs12443186	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12900512	0.82[ASN][1000 genomes]
rs12908706	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs12909682	0.95[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs12910464	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12914472	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs1356859	0.88[CEU][hapmap]
rs16974753	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1818705	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1851007	0.83[ASN][1000 genomes]
rs1851008	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1973747	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2056342	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2456976	0.89[CEU][hapmap]
rs2899546	0.89[CEU][hapmap]
rs4109295	0.89[CEU][hapmap]
rs495769	0.89[CEU][hapmap];0.82[GIH][hapmap];0.81[TSI][hapmap]
rs533450	0.85[CEU][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap]
rs540090	0.89[CEU][hapmap]
rs546169	0.89[CEU][hapmap]
rs589611	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs605869	0.89[CEU][hapmap]
rs640442	0.85[CEU][hapmap]
rs6493687	0.89[CEU][hapmap]
rs6493690	0.83[ASN][1000 genomes]
rs7163424	0.81[CHB][hapmap]
rs8023595	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs8023918	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs8025195	0.85[CEU][hapmap]
rs8026697	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8028630	0.83[MEX][hapmap]
rs8032415	1.00[CEU][hapmap]
rs8039515	1.00[CEU][hapmap]
rs8041282	1.00[CHB][hapmap]
rs8042341	0.95[CHB][hapmap]
rs885204	0.80[CEU][hapmap]
rs9302181	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12916626	UNC13C	Cis_1M	lymphoblastoid	RTeQTL
rs12916626	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	chr15:54839800-54858800	Weak transcription	Fetal Lung	lung

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