Variant report

Variant	rs1972311
Chromosome Location	chr2:50611224-50611225
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10187911	0.83[JPT][hapmap]
rs10204268	0.87[ASN][1000 genomes]
rs10208208	0.84[CEU][hapmap]
rs10210298	0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10490230	0.84[CEU][hapmap]
rs10490231	0.82[CEU][hapmap]
rs11903097	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12053271	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12463670	0.82[CEU][hapmap]
rs12474009	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12616829	0.87[ASN][1000 genomes]
rs12616901	0.86[ASN][1000 genomes]
rs12620185	0.84[ASN][1000 genomes]
rs13404855	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13407780	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1402121	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1402168	0.84[CEU][hapmap]
rs1520445	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1520451	0.82[CEU][hapmap]
rs1543973	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17040490	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17040542	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17040552	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs17040606	0.94[CEU][hapmap];0.81[CHB][hapmap];0.96[JPT][hapmap]
rs17466651	0.82[CEU][hapmap]
rs1814972	0.84[CEU][hapmap]
rs1879320	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1915170	1.00[JPT][hapmap]
rs1915171	0.84[CEU][hapmap]
rs1915172	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1969351	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2139629	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2176853	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2176854	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2176855	1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2882692	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4450643	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4493303	0.86[JPT][hapmap]
rs4971557	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4971668	0.95[ASN][1000 genomes]
rs4971670	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5019239	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6727675	0.83[ASN][1000 genomes]
rs7560420	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7560724	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7575728	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7599052	1.00[JPT][hapmap]

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	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
6	nsv948361	chr2:50611076-50785178	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	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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