Variant report

Variant	rs1347070
Chromosome Location	chr5:119744631-119744632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10036322	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10052468	0.83[EUR][1000 genomes]
rs10058597	0.82[EUR][1000 genomes]
rs10072828	0.83[EUR][1000 genomes]
rs10447269	0.82[EUR][1000 genomes]
rs10478464	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108712	0.84[EUR][1000 genomes]
rs12109029	0.83[EUR][1000 genomes]
rs13158141	0.82[EUR][1000 genomes]
rs13161485	0.81[EUR][1000 genomes]
rs13171950	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13172224	0.81[EUR][1000 genomes]
rs13357775	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13359009	0.82[EUR][1000 genomes]
rs1368182	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1368189	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394115	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432456	0.82[EUR][1000 genomes]
rs1432457	0.90[EUR][1000 genomes]
rs1432461	0.82[EUR][1000 genomes]
rs1432464	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146501	0.80[EUR][1000 genomes]
rs1835870	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082353	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082356	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116606	0.86[EUR][1000 genomes]
rs2897244	0.83[EUR][1000 genomes]
rs35399227	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895246	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4895249	0.85[EUR][1000 genomes]
rs4895250	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4895253	0.83[EUR][1000 genomes]
rs58274987	0.82[EUR][1000 genomes]
rs59264625	0.86[EUR][1000 genomes]
rs59336675	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595232	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865215	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878266	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895493	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896794	0.83[EUR][1000 genomes]
rs6899092	0.82[EUR][1000 genomes]
rs7446731	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753641	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701804	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709140	1.00[ASN][1000 genomes]
rs7713691	0.83[EUR][1000 genomes]
rs7714965	0.81[EUR][1000 genomes]
rs7718509	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7722765	1.00[ASN][1000 genomes]
rs7727978	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327141	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9327142	0.83[EUR][1000 genomes]
rs982827	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119742000-119746600	Weak transcription	Right Ventricle	heart
2	chr5:119742000-119775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:119744000-119744800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:119744400-119745200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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