Variant report

Variant	rs1394145
Chromosome Location	chr2:125241306-125241307
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:36)

rs_ID	r²[population]
rs10445856	1.00[CHB][hapmap]
rs10445857	1.00[CHB][hapmap]
rs11123041	0.89[CEU][hapmap]
rs11123042	1.00[CHB][hapmap]
rs11123043	0.88[CEU][hapmap]
rs11689115	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11888989	1.00[CHB][hapmap]
rs12373656	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs1304052	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs1394144	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430251	1.00[CHB][hapmap]
rs1503997	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504000	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574504	1.00[CHB][hapmap]
rs17320237	1.00[CHB][hapmap]
rs17392197	1.00[CHB][hapmap]
rs17725356	0.88[CEU][hapmap]
rs17725595	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs17725619	1.00[CHB][hapmap]
rs1827596	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835353	0.88[CEU][hapmap]
rs1847429	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003039	1.00[CHB][hapmap]
rs2089104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584356	0.94[CEU][hapmap]
rs4555349	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs4848936	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs6541957	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs6541961	1.00[CHB][hapmap]
rs6708079	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs6711296	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722877	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7594672	0.89[CEU][hapmap]
rs869760	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs905630	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834355	chr2:125128585-125291043	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834356	chr2:125141494-125315418	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv978947	chr2:125239714-125247227	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	chr2:125240800-125241400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:125240800-125246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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