Variant report

Variant	rs1503999
Chromosome Location	chr2:125263618-125263619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11123046	0.89[CEU][hapmap];0.85[YRI][hapmap]
rs11123048	0.83[ASN][1000 genomes]
rs11890422	0.82[CHB][hapmap]
rs12472796	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12476991	0.89[CEU][hapmap];0.87[CHB][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13008912	0.88[CEU][hapmap];0.81[CHD][hapmap]
rs13026001	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504003	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs17011501	0.82[CHB][hapmap]
rs17675618	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2421083	0.82[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs28617216	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2920059	0.89[CEU][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.89[LWK][hapmap];0.80[TSI][hapmap];0.89[YRI][hapmap]
rs34918042	0.82[CHB][hapmap];0.91[CHD][hapmap];0.83[ASN][1000 genomes]
rs56822773	0.93[ASN][1000 genomes]
rs6707121	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6722312	0.80[CHD][hapmap]
rs6752953	0.81[EUR][1000 genomes]
rs6752999	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs728050	0.85[ASN][1000 genomes]
rs7604317	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs884376	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs905628	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.99[MKK][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs905631	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs905632	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[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	nsv834357	chr2:125258157-125421507	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125259800-125271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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