Variant report

Variant	rs17026083
Chromosome Location	chr1:216269773-216269774
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10495016	1.00[YRI][hapmap]
rs12058364	1.00[YRI][hapmap]
rs12065013	1.00[YRI][hapmap]
rs12069140	1.00[YRI][hapmap]
rs12069248	1.00[YRI][hapmap]
rs12083315	0.83[AMR][1000 genomes]
rs12084494	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12090797	1.00[YRI][hapmap]
rs12090884	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12093003	1.00[YRI][hapmap]
rs12094823	1.00[YRI][hapmap]
rs12094824	1.00[YRI][hapmap]
rs17026070	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17026074	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17026077	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17026080	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042203	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55849270	0.83[AMR][1000 genomes]
rs57958865	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58877005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60354981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61445397	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74143941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143943	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143944	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv873172	chr1:216144827-216281673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1007720	chr1:216268796-216306127	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv999211	chr1:216268796-216329336	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216267000-216269800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:216268400-216269800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:216268800-216269800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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