Variant report

Variant	rs12443186
Chromosome Location	chr15:54844381-54844382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10152437	0.96[CEU][hapmap]
rs10468008	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11071072	0.82[CEU][hapmap]
rs11071087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639005	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11639014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12437724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12900512	0.84[ASN][1000 genomes]
rs12908706	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs12909682	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12910464	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12914472	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12916626	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]
rs1356859	0.88[CEU][hapmap]
rs16974753	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1818705	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1851007	0.86[ASN][1000 genomes]
rs1851008	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1973747	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2056342	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs2456976	0.89[CEU][hapmap]
rs2553222	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2553223	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs2899546	0.89[CEU][hapmap]
rs4109295	0.89[CEU][hapmap]
rs495769	0.89[CEU][hapmap]
rs533450	0.85[CEU][hapmap]
rs540090	0.89[CEU][hapmap]
rs546169	0.89[CEU][hapmap]
rs589611	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs605869	0.89[CEU][hapmap]
rs640442	0.85[CEU][hapmap]
rs6493687	0.89[CEU][hapmap]
rs6493690	0.86[ASN][1000 genomes]
rs7163424	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs8023595	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs8023918	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs8025195	0.85[CEU][hapmap]
rs8026697	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8032415	1.00[CEU][hapmap]
rs8039515	1.00[CEU][hapmap]
rs8040060	0.81[JPT][hapmap]
rs8040774	0.80[JPT][hapmap]
rs8041282	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs8042341	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs9302181	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3342728	chr15:54843485-54846233	Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3344298	chr15:54843610-54846683	Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv3326604	chr15:54844185-54847033	Weak transcription	n/a	n/a	inside rSNPs	diseases
7	esv3324791	chr15:54844210-54846358	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12443186	UNC13C	Cis_1M	lymphoblastoid	RTeQTL

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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