Variant report

Variant	rs71516963
Chromosome Location	chr1:186566429-186566430
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11800288	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11800338	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11801617	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11802705	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11804161	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11804785	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11806329	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11806663	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11806701	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11807318	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11807443	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11807927	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11808165	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11809088	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11811259	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11811260	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11811335	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12723621	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12726528	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12726764	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12731687	0.81[ASN][1000 genomes]
rs12739006	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12739643	0.81[ASN][1000 genomes]
rs12747991	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12753223	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16825600	0.83[AMR][1000 genomes]
rs2206974	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2223783	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2223784	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2383509	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34200789	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34249733	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34272627	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34310508	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34513409	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34578387	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34778311	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34783173	0.83[ASN][1000 genomes]
rs34858233	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35240980	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35481005	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35636342	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36016361	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs36030781	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs36053737	0.83[AMR][1000 genomes]
rs4140432	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6674145	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6678198	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6680055	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6683271	0.81[ASN][1000 genomes]
rs71634173	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71634175	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71634176	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186565800-186568200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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