Variant report

Variant	rs371947
Chromosome Location	chr1:216299013-216299014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11120735	0.85[EUR][1000 genomes]
rs1830857	1.00[ASN][1000 genomes]
rs301743	0.80[CEU][hapmap];0.94[AMR][1000 genomes]
rs301749	0.80[CEU][hapmap];0.85[AMR][1000 genomes]
rs301751	0.80[CEU][hapmap];0.85[AMR][1000 genomes]
rs301753	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs301755	0.80[CEU][hapmap]
rs301756	0.80[CEU][hapmap]
rs301757	0.80[CEU][hapmap]
rs368107	0.89[CEU][hapmap];0.89[AMR][1000 genomes]
rs386851	0.80[CEU][hapmap]
rs448588	0.80[CEU][hapmap];0.89[AMR][1000 genomes]
rs453273	0.80[CEU][hapmap];0.89[AMR][1000 genomes]
rs503092	0.86[EUR][1000 genomes]
rs532342	1.00[ASN][1000 genomes]
rs56222536	0.80[EUR][1000 genomes]
rs594799	0.80[CEU][hapmap];0.89[AMR][1000 genomes]
rs637374	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687476	0.80[CEU][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1007720	chr1:216268796-216306127	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv999211	chr1:216268796-216329336	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216291000-216300200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:216296000-216301600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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

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