Variant report

Variant	rs57000389
Chromosome Location	chr8:113089670-113089671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10955610	0.86[AMR][1000 genomes]
rs12546646	0.82[AMR][1000 genomes]
rs12549576	0.82[AMR][1000 genomes]
rs12675200	0.86[AMR][1000 genomes]
rs12677122	0.86[AMR][1000 genomes]
rs16882968	0.86[AMR][1000 genomes]
rs16882998	0.86[AMR][1000 genomes]
rs16883001	0.86[AMR][1000 genomes]
rs2352574	0.82[AMR][1000 genomes]
rs59996303	0.86[AMR][1000 genomes]
rs716313	0.82[AMR][1000 genomes]
rs73324391	0.86[AMR][1000 genomes]
rs73331414	0.86[AMR][1000 genomes]
rs73335206	0.86[AMR][1000 genomes]
rs73335215	0.86[AMR][1000 genomes]
rs73335220	0.86[AMR][1000 genomes]
rs9693350	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015355	chr8:112558586-113154605	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv539722	chr8:112558586-113154605	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1023006	chr8:112756497-113141033	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539724	chr8:112756497-113141033	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv891321	chr8:112978128-113229425	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv891322	chr8:112978128-113267916	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv6351	chr8:113067356-113101932	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
9	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	esv3490686	chr8:113077276-113090474	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	inside rSNPs	n/a
11	esv1808985	chr8:113077676-113094233	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
12	esv3490684	chr8:113077926-113090324	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113086400-113095200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:113089600-113090600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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