Variant report

Variant	rs698556
Chromosome Location	chr2:189559401-189559402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10173369	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199260	1.00[CHB][hapmap]
rs1066766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1092261	0.84[EUR][1000 genomes]
rs10931374	0.88[AMR][1000 genomes]
rs10931376	0.82[EUR][1000 genomes]
rs11676859	0.82[EUR][1000 genomes]
rs11686702	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12693504	0.91[CEU][hapmap]
rs13011602	0.82[EUR][1000 genomes]
rs1354902	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs1395867	0.82[EUR][1000 genomes]
rs1395868	0.82[EUR][1000 genomes]
rs1395869	0.91[CEU][hapmap]
rs1507562	0.82[EUR][1000 genomes]
rs1588121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830169	0.91[CEU][hapmap]
rs28448381	1.00[ASN][1000 genomes]
rs2882532	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3935690	0.87[EUR][1000 genomes]
rs4146571	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4666765	0.83[ASN][1000 genomes]
rs698552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698557	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7425417	0.83[CEU][hapmap]
rs7574550	0.83[ASN][1000 genomes]
rs7599978	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603970	1.00[ASN][1000 genomes]
rs781283	0.91[CEU][hapmap]
rs781284	0.91[CEU][hapmap]
rs781286	0.91[CEU][hapmap]
rs781288	0.91[CEU][hapmap]
rs781454	0.84[EUR][1000 genomes]
rs955813	0.82[EUR][1000 genomes]

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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1842768	chr2:189555506-189635696	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv962045	chr2:189558969-189572331	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189555400-189560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189558400-189560600	Weak transcription	HMEC	breast
3	chr2:189558800-189560400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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