Variant report

Variant	rs56797758
Chromosome Location	chr2:185329381-185329382
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185315694..185318075-chr2:185327155..185329634,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10206367	1.00[EUR][1000 genomes]
rs11891366	1.00[EUR][1000 genomes]
rs11898500	1.00[EUR][1000 genomes]
rs13384922	1.00[EUR][1000 genomes]
rs13417933	1.00[EUR][1000 genomes]
rs13431559	1.00[EUR][1000 genomes]
rs2053563	1.00[EUR][1000 genomes]
rs359883	1.00[EUR][1000 genomes]
rs359897	1.00[EUR][1000 genomes]
rs384591	1.00[EUR][1000 genomes]
rs406498	1.00[EUR][1000 genomes]
rs59038604	1.00[EUR][1000 genomes]
rs61400218	1.00[EUR][1000 genomes]
rs6760206	1.00[EUR][1000 genomes]
rs73041324	1.00[EUR][1000 genomes]
rs73041327	1.00[EUR][1000 genomes]
rs73978033	1.00[EUR][1000 genomes]
rs73978034	1.00[EUR][1000 genomes]
rs73978036	1.00[EUR][1000 genomes]
rs73978037	1.00[EUR][1000 genomes]
rs73978039	1.00[EUR][1000 genomes]
rs73978042	1.00[EUR][1000 genomes]
rs7601869	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv818102	chr2:185210610-185339921	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
3	esv2756955	chr2:185210745-185370786	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759106	chr2:185210745-185370786	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	esv3459904	chr2:185214246-185346055	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
6	esv3459905	chr2:185214246-185346055	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
7	esv3693448	chr2:185242856-185333717	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875506	chr2:185242856-185339475	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1006523	chr2:185295690-185350943	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv875510	chr2:185296258-185400303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv875511	chr2:185300641-185400303	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv584004	chr2:185326251-185374189	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185328200-185331200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:185328400-185329600	Enhancers	Liver	Liver
3	chr2:185328800-185329400	Enhancers	Fetal Intestine Large	intestine
4	chr2:185329000-185329400	Enhancers	Pancreas	Pancrea

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