Variant report

Variant	rs598474
Chromosome Location	chr2:50432756-50432757
allele	G/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:44)

rs_ID	r²[population]
rs10203599	0.81[ASN][1000 genomes]
rs10209998	0.94[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs10432670	0.81[ASN][1000 genomes]
rs10490239	0.86[JPT][hapmap];0.93[YRI][hapmap];0.81[ASN][1000 genomes]
rs10490242	0.87[CHB][hapmap];0.89[YRI][hapmap]
rs11892979	0.84[CHB][hapmap];0.93[YRI][hapmap]
rs12615968	0.81[CHB][hapmap];0.94[YRI][hapmap]
rs12713086	0.83[ASN][1000 genomes]
rs13001872	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs13008902	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs13010879	0.83[ASN][1000 genomes]
rs13016084	0.80[ASN][1000 genomes]
rs13026006	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13028133	0.87[CHB][hapmap];0.94[YRI][hapmap];0.83[ASN][1000 genomes]
rs13430861	0.87[CHB][hapmap];0.87[YRI][hapmap]
rs1523357	0.83[ASN][1000 genomes]
rs1563018	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17039291	0.87[CHB][hapmap];0.88[YRI][hapmap]
rs1712886	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1715983	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1915224	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs2351155	0.87[CHB][hapmap]
rs2678222	0.85[ASN][1000 genomes]
rs2678223	0.83[YRI][hapmap];0.86[ASN][1000 genomes]
rs2678224	0.94[CHB][hapmap];0.84[YRI][hapmap];0.86[ASN][1000 genomes]
rs2688890	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[YRI][hapmap];0.83[ASN][1000 genomes]
rs2688891	0.94[CHB][hapmap];0.80[JPT][hapmap];0.94[YRI][hapmap]
rs527673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs593468	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs598426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs610969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs613166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6545153	0.87[CHB][hapmap];0.94[YRI][hapmap];0.81[ASN][1000 genomes]
rs6714191	0.83[ASN][1000 genomes]
rs689174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7560239	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs7572610	0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap]
rs7606758	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs9309178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs973364	0.88[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.81[ASN][1000 genomes]
rs974827	0.87[CHB][hapmap];0.89[YRI][hapmap]
rs985131	0.84[ASN][1000 genomes]
rs985132	0.87[CHB][hapmap];0.94[YRI][hapmap];0.84[ASN][1000 genomes]
rs995624	1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	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
4	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
9	nsv581839	chr2:50409803-50438701	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
10	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
11	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
12	nsv470459	chr2:50431752-50514027	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv581840	chr2:50432463-50450879	Enhancers Weak transcription	n/a	n/a	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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