Variant report

Variant	rs12622337
Chromosome Location	chr2:56841525-56841526
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1016542	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs10210898	0.81[ASN][1000 genomes]
rs11125634	0.83[ASN][1000 genomes]
rs11125635	0.83[ASN][1000 genomes]
rs11125642	0.81[ASN][1000 genomes]
rs1156672	0.83[ASN][1000 genomes]
rs13418332	0.90[ASN][1000 genomes]
rs17039629	0.83[ASN][1000 genomes]
rs17048168	0.88[ASN][1000 genomes]
rs17048169	0.88[ASN][1000 genomes]
rs17048170	0.88[ASN][1000 genomes]
rs17048179	0.88[ASN][1000 genomes]
rs17048181	0.88[ASN][1000 genomes]
rs17048202	0.81[ASN][1000 genomes]
rs17048231	0.91[ASN][1000 genomes]
rs1991187	0.88[ASN][1000 genomes]
rs2112026	0.94[ASN][1000 genomes]
rs2112027	0.92[ASN][1000 genomes]
rs2194799	0.92[ASN][1000 genomes]
rs4671282	0.82[ASN][1000 genomes]
rs4672129	0.82[ASN][1000 genomes]
rs4672130	0.82[ASN][1000 genomes]
rs4672131	0.82[ASN][1000 genomes]
rs55786755	0.90[ASN][1000 genomes]
rs55889936	0.81[ASN][1000 genomes]
rs56125384	0.90[ASN][1000 genomes]
rs57190241	0.83[ASN][1000 genomes]
rs57624751	0.90[ASN][1000 genomes]
rs58139318	0.90[ASN][1000 genomes]
rs58711470	0.83[ASN][1000 genomes]
rs60442457	0.90[ASN][1000 genomes]
rs60639564	0.94[ASN][1000 genomes]
rs61403966	0.80[ASN][1000 genomes]
rs62160713	0.88[ASN][1000 genomes]
rs62160714	0.81[ASN][1000 genomes]
rs62160717	0.91[ASN][1000 genomes]
rs62160718	0.91[ASN][1000 genomes]
rs62161433	0.94[ASN][1000 genomes]
rs62161435	0.92[ASN][1000 genomes]
rs62161436	0.92[ASN][1000 genomes]
rs66532230	0.94[ASN][1000 genomes]
rs6745039	0.91[ASN][1000 genomes]
rs68044837	0.94[ASN][1000 genomes]
rs68152617	0.94[ASN][1000 genomes]
rs7564301	0.88[ASN][1000 genomes]
rs7568508	0.88[ASN][1000 genomes]
rs7592116	0.83[ASN][1000 genomes]
rs7593494	0.81[ASN][1000 genomes]
rs7605708	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
6	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
7	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
8	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
9	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
10	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
11	nsv582057	chr2:56816986-56854346	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv874179	chr2:56817927-56957466	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv874180	chr2:56822558-56957466	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3329463	chr2:56823350-56853252	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56840600-56841600	Enhancers	HSMM	muscle
2	chr2:56840800-56841600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:56841400-56841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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