Variant report

Variant	rs11125642
Chromosome Location	chr2:56814463-56814464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10164491	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10165392	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1016542	0.81[JPT][hapmap]
rs10165778	0.88[ASN][1000 genomes]
rs10175426	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10187925	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10189772	0.88[ASN][1000 genomes]
rs10208385	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10210898	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865295	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11125634	0.81[ASN][1000 genomes]
rs11125635	0.81[ASN][1000 genomes]
rs11125636	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1156671	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1156672	0.81[ASN][1000 genomes]
rs11694653	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11890368	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12470157	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12471657	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471905	0.88[ASN][1000 genomes]
rs12475304	0.88[ASN][1000 genomes]
rs12622337	0.81[ASN][1000 genomes]
rs13401378	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13403703	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13411277	0.82[EUR][1000 genomes]
rs13418332	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17039629	0.81[ASN][1000 genomes]
rs17048168	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17048169	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17048170	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17048179	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17048181	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17048202	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17048231	0.89[ASN][1000 genomes]
rs1991185	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991186	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991187	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1991188	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2033016	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2033017	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2033018	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081426	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2112026	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2112027	0.85[ASN][1000 genomes]
rs2194799	0.80[ASN][1000 genomes]
rs2870064	0.87[EUR][1000 genomes]
rs2870065	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3948576	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4365495	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4395277	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4521082	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671286	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672131	0.80[ASN][1000 genomes]
rs4672136	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672138	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672139	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4672140	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672142	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55786755	0.88[ASN][1000 genomes]
rs55889936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125384	0.88[ASN][1000 genomes]
rs56191705	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57190241	0.81[ASN][1000 genomes]
rs57457595	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57624751	0.88[ASN][1000 genomes]
rs58139318	0.88[ASN][1000 genomes]
rs58711470	0.81[ASN][1000 genomes]
rs60442457	0.88[ASN][1000 genomes]
rs60639564	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61403966	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62160711	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62160712	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62160713	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62160714	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62160717	0.89[ASN][1000 genomes]
rs62160718	0.89[ASN][1000 genomes]
rs62161431	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62161433	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62161434	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62161435	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62161436	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6545582	0.89[ASN][1000 genomes]
rs66532230	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6708114	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6731016	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6731142	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6745039	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745582	0.91[EUR][1000 genomes]
rs68044837	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68152617	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7564301	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7564662	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7566128	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7568508	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7571779	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7592116	0.81[ASN][1000 genomes]
rs7593494	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598711	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7605708	0.81[ASN][1000 genomes]
rs9309284	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9309285	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs965946	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
17	nsv829434	chr2:56812143-56815000	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 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	chr2:56814200-56814800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:56814200-56815200	Enhancers	HSMM	muscle
5	chr2:56814400-56814800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:56814400-56815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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