Variant report

Variant	rs1473347
Chromosome Location	chr3:54410532-54410533
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12632768	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13327625	0.83[EUR][1000 genomes]
rs1449326	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1449327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1449328	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1449329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1449330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1449333	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1473345	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868497	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1868502	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1868508	0.86[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs1975611	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992963	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1992964	0.81[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs2359789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2359790	0.85[CEU][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2359792	0.83[EUR][1000 genomes]
rs2359793	0.85[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs4025912	0.84[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs4974370	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73089420	0.83[EUR][1000 genomes]
rs731507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7372444	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7372695	0.96[ASN][1000 genomes]
rs7429237	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7648293	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9311528	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9311529	0.94[JPT][hapmap]
rs9827201	0.85[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs9830682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9836159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9841318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs9841979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9851130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9855860	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs9861155	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs9862712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9862718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9870407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9877455	0.82[EUR][1000 genomes]
rs9877529	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9882285	0.82[EUR][1000 genomes]
rs9882299	0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs9882553	0.82[EUR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv817210	chr3:54365684-54511164	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54407800-54411200	Enhancers	Hela-S3	cervix
2	chr3:54409000-54411400	Enhancers	Right Atrium	heart
3	chr3:54409600-54411800	Enhancers	Fetal Lung	lung
4	chr3:54410200-54410600	Enhancers	Fetal Muscle Trunk	muscle
5	chr3:54410200-54410600	Enhancers	Psoas Muscle	Psoas
6	chr3:54410200-54411400	Enhancers	Ovary	ovary
7	chr3:54410200-54411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:54410200-54412600	Enhancers	Fetal Brain Male	brain

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