Variant report

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

rs_ID	r²[population]
rs1039295	1.00[EUR][1000 genomes]
rs10493193	1.00[CHB][hapmap]
rs10493194	1.00[CHB][hapmap]
rs11206626	0.89[CHB][hapmap]
rs11206645	1.00[EUR][1000 genomes]
rs12059018	1.00[EUR][1000 genomes]
rs12068867	1.00[EUR][1000 genomes]
rs12071564	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12076746	1.00[EUR][1000 genomes]
rs12081733	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12088041	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1392137	1.00[EUR][1000 genomes]
rs17112410	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17112413	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs28475680	1.00[EUR][1000 genomes]
rs59236443	1.00[EUR][1000 genomes]
rs59539072	1.00[EUR][1000 genomes]
rs60149406	1.00[EUR][1000 genomes]
rs6588567	1.00[CHB][hapmap]
rs6670673	1.00[CHB][hapmap]
rs6677373	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6680818	1.00[CHB][hapmap]
rs7416182	1.00[EUR][1000 genomes]
rs7520444	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs7548272	1.00[CHB][hapmap]

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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56063200-56089000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:56077200-56086000	Weak transcription	Aorta	Aorta
3	chr1:56079200-56083800	Weak transcription	HSMM	muscle
4	chr1:56080800-56082800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:56082400-56083400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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