Variant report

Variant	rs73102253
Chromosome Location	chr12:40585792-40585793
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11564134	1.00[AMR][1000 genomes]
rs11564154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564174	1.00[AMR][1000 genomes]
rs11564188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564189	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564191	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564195	1.00[AMR][1000 genomes]
rs11564208	1.00[AMR][1000 genomes]
rs11564211	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17519531	1.00[AMR][1000 genomes]
rs17519580	1.00[AMR][1000 genomes]
rs3906865	1.00[AMR][1000 genomes]
rs73092794	1.00[AMR][1000 genomes]
rs73092800	1.00[AMR][1000 genomes]
rs73093531	1.00[AMR][1000 genomes]
rs73094944	1.00[AMR][1000 genomes]
rs73097442	1.00[AMR][1000 genomes]
rs73097447	1.00[AMR][1000 genomes]
rs73097459	1.00[AMR][1000 genomes]
rs73097463	1.00[AMR][1000 genomes]
rs73097494	1.00[AMR][1000 genomes]
rs73101828	1.00[AMR][1000 genomes]
rs73102259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102280	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102282	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102293	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102750	1.00[AMR][1000 genomes]
rs73102757	1.00[AMR][1000 genomes]
rs73102773	1.00[AMR][1000 genomes]
rs73105433	1.00[AMR][1000 genomes]
rs73105445	1.00[AMR][1000 genomes]
rs73105478	1.00[AMR][1000 genomes]
rs73105482	1.00[AMR][1000 genomes]
rs73106314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106342	1.00[AMR][1000 genomes]
rs73106345	1.00[AMR][1000 genomes]
rs73106346	1.00[AMR][1000 genomes]
rs73106349	1.00[AMR][1000 genomes]
rs73106357	1.00[AMR][1000 genomes]
rs73107134	1.00[AMR][1000 genomes]
rs73107137	1.00[AMR][1000 genomes]
rs73107664	1.00[AMR][1000 genomes]
rs73107677	1.00[AMR][1000 genomes]
rs73108321	1.00[AMR][1000 genomes]
rs73108345	1.00[AMR][1000 genomes]
rs73108347	1.00[AMR][1000 genomes]
rs73108352	1.00[AMR][1000 genomes]
rs73108357	1.00[AMR][1000 genomes]
rs73108363	1.00[AMR][1000 genomes]
rs73108365	1.00[AMR][1000 genomes]
rs73108371	1.00[AMR][1000 genomes]
rs73108376	1.00[AMR][1000 genomes]
rs7315719	1.00[AMR][1000 genomes]
rs7315853	1.00[AMR][1000 genomes]
rs7316047	1.00[AMR][1000 genomes]
rs7966059	1.00[AMR][1000 genomes]
rs7974320	0.87[AFR][1000 genomes];1.00[AMR][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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40584400-40586000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:40585600-40587200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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