Variant report

Variant	rs2216493
Chromosome Location	chr2:56815345-56815346
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10165672	1.00[EUR][1000 genomes]
rs10165892	1.00[EUR][1000 genomes]
rs10166050	1.00[EUR][1000 genomes]
rs10171224	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10176983	1.00[EUR][1000 genomes]
rs10178661	1.00[EUR][1000 genomes]
rs10180194	1.00[EUR][1000 genomes]
rs10181815	1.00[EUR][1000 genomes]
rs10181900	1.00[EUR][1000 genomes]
rs10183259	1.00[EUR][1000 genomes]
rs10193624	1.00[EUR][1000 genomes]
rs10193747	1.00[EUR][1000 genomes]
rs10195595	1.00[EUR][1000 genomes]
rs10198440	1.00[EUR][1000 genomes]
rs10200031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10202374	1.00[EUR][1000 genomes]
rs10202443	1.00[EUR][1000 genomes]
rs10208606	1.00[EUR][1000 genomes]
rs11887424	1.00[EUR][1000 genomes]
rs11896577	1.00[EUR][1000 genomes]
rs11897129	1.00[EUR][1000 genomes]
rs12328751	1.00[EUR][1000 genomes]
rs13382467	1.00[EUR][1000 genomes]
rs13384170	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13384989	1.00[EUR][1000 genomes]
rs13385548	1.00[EUR][1000 genomes]
rs13386206	1.00[EUR][1000 genomes]
rs13386727	1.00[EUR][1000 genomes]
rs13387143	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13392858	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13396144	1.00[EUR][1000 genomes]
rs13398609	1.00[EUR][1000 genomes]
rs13398719	1.00[EUR][1000 genomes]
rs13401849	1.00[EUR][1000 genomes]
rs13407080	1.00[EUR][1000 genomes]
rs13407738	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408350	1.00[EUR][1000 genomes]
rs13411174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13412157	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13417902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13418673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421608	1.00[EUR][1000 genomes]
rs13431398	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047938	1.00[EUR][1000 genomes]
rs17047945	1.00[EUR][1000 genomes]
rs17048166	1.00[EUR][1000 genomes]
rs17048167	1.00[EUR][1000 genomes]
rs17048189	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17048223	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2067828	1.00[EUR][1000 genomes]
rs2081427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2193483	1.00[EUR][1000 genomes]
rs2194793	1.00[EUR][1000 genomes]
rs28654487	1.00[EUR][1000 genomes]
rs28673216	1.00[EUR][1000 genomes]
rs28678883	1.00[EUR][1000 genomes]
rs2904312	1.00[EUR][1000 genomes]
rs55923854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59211909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59956872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740161	1.00[EUR][1000 genomes]
rs6741874	1.00[EUR][1000 genomes]
rs73940723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940724	1.00[EUR][1000 genomes]
rs73940726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940728	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73940730	0.81[AMR][1000 genomes]
rs7556872	1.00[EUR][1000 genomes]
rs7559732	1.00[EUR][1000 genomes]
rs7570781	1.00[EUR][1000 genomes]
rs7586424	1.00[EUR][1000 genomes]
rs7595192	1.00[EUR][1000 genomes]
rs7599191	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757800	chr2:56659685-56851198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759052	chr2:56659685-56851198	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv582050	chr2:56702495-56854346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582051	chr2:56706758-56902709	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874175	chr2:56731966-56821883	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv874176	chr2:56736097-56821883	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv874177	chr2:56739650-56821883	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv874178	chr2:56739650-56839139	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv817973	chr2:56743435-56817927	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1005547	chr2:56751574-56887287	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1012596	chr2:56761303-56916336	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv535725	chr2:56761303-56916336	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1008859	chr2:56767452-57126026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv535726	chr2:56767452-57126026	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1009860	chr2:56768276-56896971	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv582056	chr2:56785785-56822558	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56810600-56816000	Weak transcription	NHEK	skin
2	chr2:56810800-56815800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:56814400-56815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:56814800-56816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:56814800-56818000	Weak transcription	Muscle Satellite Cultured Cells	--

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