Variant report

Variant	rs6545582
Chromosome Location	chr2:56839003-56839004
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10164491	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10165392	0.86[ASN][1000 genomes]
rs1016542	0.88[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs10175426	0.81[ASN][1000 genomes]
rs10187925	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10190939	0.83[ASN][1000 genomes]
rs10208385	0.84[ASN][1000 genomes]
rs10210898	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10865295	0.81[ASN][1000 genomes]
rs11125636	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11125642	0.89[ASN][1000 genomes]
rs1156671	0.81[ASN][1000 genomes]
rs11694653	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11890368	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12470157	0.86[ASN][1000 genomes]
rs12471657	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12611839	0.80[EUR][1000 genomes]
rs13401378	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13403703	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411277	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17048202	0.89[ASN][1000 genomes]
rs1991185	0.86[ASN][1000 genomes]
rs1991186	0.86[ASN][1000 genomes]
rs1991188	0.86[ASN][1000 genomes]
rs2033016	0.87[ASN][1000 genomes]
rs2033017	0.86[ASN][1000 genomes]
rs2033018	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2081426	0.86[ASN][1000 genomes]
rs2112026	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2112027	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2870065	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2870077	0.86[ASN][1000 genomes]
rs3948576	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4365495	0.86[ASN][1000 genomes]
rs4395277	0.86[ASN][1000 genomes]
rs4521082	0.87[ASN][1000 genomes]
rs4671286	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4672136	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4672138	0.86[ASN][1000 genomes]
rs4672139	0.86[ASN][1000 genomes]
rs4672140	0.86[ASN][1000 genomes]
rs4672142	0.87[ASN][1000 genomes]
rs55889936	0.89[ASN][1000 genomes]
rs56191705	0.86[ASN][1000 genomes]
rs57457595	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60639564	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61403966	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62160711	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62160712	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62160714	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62161431	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62161433	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62161434	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62161435	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62161436	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66532230	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6708114	0.81[ASN][1000 genomes]
rs6728372	0.86[ASN][1000 genomes]
rs6731016	0.81[ASN][1000 genomes]
rs6731142	0.81[ASN][1000 genomes]
rs6742821	0.80[ASN][1000 genomes]
rs6757997	0.86[ASN][1000 genomes]
rs68044837	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs68152617	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7564662	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7571779	0.86[ASN][1000 genomes]
rs7593494	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7598711	0.86[ASN][1000 genomes]
rs9309284	0.86[ASN][1000 genomes]
rs9309285	0.86[ASN][1000 genomes]
rs965946	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv582057	chr2:56816986-56854346	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv874179	chr2:56817927-56957466	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv874180	chr2:56822558-56957466	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3332051	chr2:56823350-56840215	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
16	esv3329463	chr2:56823350-56853252	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6545582	EFEMP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56838200-56840800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:56838400-56840600	Weak transcription	HSMM	muscle

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