Variant report

Variant	rs8189966
Chromosome Location	chr5:52522247-52522248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10402894	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10414231	0.91[AMR][1000 genomes]
rs12983924	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1594022	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1813763	0.91[AMR][1000 genomes]
rs1989100	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2112397	0.85[AMR][1000 genomes]
rs2112398	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2194005	0.88[AMR][1000 genomes]
rs2216582	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2216583	0.91[AMR][1000 genomes]
rs2407384	0.88[AMR][1000 genomes]
rs2894557	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3906350	0.81[EUR][1000 genomes]
rs4255885	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4281837	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4287695	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4292027	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4480922	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4547453	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62108182	0.91[AMR][1000 genomes]
rs62108183	0.91[AMR][1000 genomes]
rs62108188	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62108194	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62108197	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62108229	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62108230	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62108231	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62108232	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62108233	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62108242	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62108244	0.86[EUR][1000 genomes]
rs62109984	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62109987	0.82[EUR][1000 genomes]
rs62109988	0.82[EUR][1000 genomes]
rs62109989	0.82[EUR][1000 genomes]
rs62110029	0.81[EUR][1000 genomes]
rs62110030	0.82[EUR][1000 genomes]
rs62110031	0.82[EUR][1000 genomes]
rs62111932	0.82[AMR][1000 genomes]
rs8175862	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8189781	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8189841	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv515913	chr5:52492677-52545841	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv522454	chr5:52492677-52571758	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv880833	chr5:52502168-52544231	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:52509600-52540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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