Variant report

Variant	rs1818714
Chromosome Location	chr2:50609923-50609924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10181522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10184843	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10188271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10191261	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs10201390	0.94[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap]
rs10203960	0.94[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap]
rs10205311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10209627	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10210660	0.94[CEU][hapmap];0.90[JPT][hapmap]
rs10490228	0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12465784	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12467043	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12475464	1.00[CEU][hapmap]
rs12475979	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12476139	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12620045	0.80[AMR][1000 genomes]
rs12713097	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12713098	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713100	0.81[AMR][1000 genomes]
rs12994492	0.91[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs13005521	1.00[CEU][hapmap]
rs13014058	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs13014624	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13032292	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13032775	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13382506	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs13392422	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs13421278	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs13430295	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13430435	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1402124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1402128	0.90[JPT][hapmap]
rs1520443	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1520446	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1520449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533692	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17040569	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17040577	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17040600	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17533753	1.00[YRI][hapmap]
rs1818715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1818716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1851015	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2351517	0.94[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap]
rs4638832	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57564327	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6709416	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6744418	0.80[EUR][1000 genomes]
rs6756081	0.80[AMR][1000 genomes]
rs7567375	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs7581097	0.94[CEU][hapmap]
rs939402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv948548	chr2:50569117-50695100	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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