Variant report

Variant	rs12611770
Chromosome Location	chr2:116076893-116076894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165687	0.82[ASN][1000 genomes]
rs10167944	0.82[ASN][1000 genomes]
rs10181472	0.81[AMR][1000 genomes]
rs10181696	0.81[ASN][1000 genomes]
rs10451600	0.82[ASN][1000 genomes]
rs10496490	0.85[ASN][1000 genomes]
rs10496491	0.82[ASN][1000 genomes]
rs11123302	0.83[ASN][1000 genomes]
rs11678564	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11690705	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11883530	0.85[ASN][1000 genomes]
rs11898241	0.83[ASN][1000 genomes]
rs11898436	0.82[ASN][1000 genomes]
rs13017848	0.82[ASN][1000 genomes]
rs1356384	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1400660	0.84[ASN][1000 genomes]
rs1400662	0.82[ASN][1000 genomes]
rs1400663	0.82[ASN][1000 genomes]
rs1400668	0.87[ASN][1000 genomes]
rs1517361	0.82[ASN][1000 genomes]
rs1517362	0.84[ASN][1000 genomes]
rs1521075	0.85[AMR][1000 genomes]
rs1521078	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1607914	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1812952	0.82[AMR][1000 genomes]
rs2420815	0.85[ASN][1000 genomes]
rs2420819	0.87[ASN][1000 genomes]
rs2421100	0.84[ASN][1000 genomes]
rs4241133	0.93[ASN][1000 genomes]
rs4268936	0.85[ASN][1000 genomes]
rs4493269	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4610067	0.85[ASN][1000 genomes]
rs4614945	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4629160	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62167292	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62167293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542259	0.82[ASN][1000 genomes]
rs6726183	0.93[ASN][1000 genomes]
rs6749876	0.82[AMR][1000 genomes]
rs7561031	0.84[ASN][1000 genomes]
rs7563562	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7568698	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7571103	0.81[AMR][1000 genomes]
rs7589983	0.84[ASN][1000 genomes]
rs7605036	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs908599	0.85[ASN][1000 genomes]
rs908600	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs963850	0.82[ASN][1000 genomes]
rs963851	0.82[ASN][1000 genomes]
rs975453	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs992218	0.87[ASN][1000 genomes]
rs993986	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001542	chr2:115920847-116082585	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834339	chr2:115953298-116132979	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3451356	chr2:116073771-116101275	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116068000-116083000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:116070600-116082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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