Variant report

Variant	rs1330472
Chromosome Location	chr13:92527649-92527650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12050058	0.89[CHB][hapmap]
rs12431259	0.95[CHB][hapmap]
rs1394888	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs1412313	0.89[CHB][hapmap]
rs1505565	0.94[CHB][hapmap]
rs173141	0.82[CHB][hapmap]
rs17668748	0.95[CHB][hapmap]
rs1819421	0.81[CHD][hapmap]
rs1827755	0.90[CHB][hapmap]
rs1831564	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs193208	0.83[CHB][hapmap]
rs1988500	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs2352028	0.84[CHB][hapmap]
rs2352029	0.89[CHB][hapmap]
rs2352202	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs2938868	0.84[CHB][hapmap]
rs2938869	0.84[CHB][hapmap]
rs2938874	0.84[CHB][hapmap]
rs2989995	0.89[CHB][hapmap]
rs2990004	0.84[CHB][hapmap]
rs2990007	0.84[CHB][hapmap]
rs342706	0.84[CHB][hapmap]
rs400118	0.88[CHB][hapmap]
rs4403912	0.80[EUR][1000 genomes]
rs464160	0.84[CHB][hapmap]
rs528366	0.84[CHB][hapmap]
rs535973	0.84[CHB][hapmap]
rs7320766	0.95[CHB][hapmap]
rs7985030	0.89[CHB][hapmap]
rs7986027	0.89[CHB][hapmap]
rs7987852	0.94[CHB][hapmap]
rs7997428	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs9301758	0.81[CHD][hapmap]
rs9515975	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs9523438	0.84[CEU][hapmap]
rs9523439	0.84[CEU][hapmap]
rs9523441	0.84[CEU][hapmap];0.81[GIH][hapmap]
rs9556125	0.94[CHB][hapmap]
rs9560852	0.88[CHB][hapmap]
rs9560853	0.89[CHB][hapmap]
rs9560860	0.89[CHB][hapmap]
rs9560868	0.88[CHB][hapmap]
rs9560869	0.94[CHB][hapmap]
rs9560874	0.94[CHB][hapmap]
rs9560875	0.95[CHB][hapmap]
rs9560880	0.95[CHB][hapmap]
rs9560883	0.95[CHB][hapmap]
rs9589358	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3378326	chr13:92445514-92816367	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv562721	chr13:92476602-92548841	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
4	nsv900883	chr13:92481236-92602622	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv976142	chr13:92492782-92567759	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1330472	GPC6	cis	cerebellum	SCAN
rs1330472	GPC5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92527200-92528200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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