Variant report

Variant	rs12712256
Chromosome Location	chr2:98871037-98871038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10172087	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10176056	0.92[ASN][1000 genomes]
rs10190336	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10199476	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10201994	0.92[ASN][1000 genomes]
rs10202618	0.94[ASN][1000 genomes]
rs10203437	0.94[ASN][1000 genomes]
rs11124096	0.86[ASN][1000 genomes]
rs11124119	0.86[ASN][1000 genomes]
rs11124121	0.94[ASN][1000 genomes]
rs11889349	0.89[ASN][1000 genomes]
rs11891512	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11895654	0.86[ASN][1000 genomes]
rs11901562	1.00[ASN][1000 genomes]
rs12478763	0.89[ASN][1000 genomes]
rs12478769	0.89[ASN][1000 genomes]
rs12622324	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12624294	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12993718	0.89[ASN][1000 genomes]
rs12993818	0.86[ASN][1000 genomes]
rs13013876	0.89[ASN][1000 genomes]
rs13033263	0.89[ASN][1000 genomes]
rs13415414	0.92[ASN][1000 genomes]
rs1451251	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1466944	0.86[ASN][1000 genomes]
rs1504679	0.94[ASN][1000 genomes]
rs17427684	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17428056	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17493655	0.92[ASN][1000 genomes]
rs17493788	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1875880	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2122756	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2202387	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2221416	0.94[ASN][1000 genomes]
rs3731659	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4374424	0.89[ASN][1000 genomes]
rs4389366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455212	0.86[ASN][1000 genomes]
rs4477970	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4479470	0.89[ASN][1000 genomes]
rs4494805	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4535095	0.86[ASN][1000 genomes]
rs4632400	0.89[ASN][1000 genomes]
rs4851122	1.00[ASN][1000 genomes]
rs4851123	0.94[ASN][1000 genomes]
rs4851124	0.90[ASN][1000 genomes]
rs4851935	0.82[ASN][1000 genomes]
rs4851952	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851953	0.87[ASN][1000 genomes]
rs4851954	0.98[ASN][1000 genomes]
rs4851955	0.94[ASN][1000 genomes]
rs4851959	0.90[ASN][1000 genomes]
rs4851960	0.84[ASN][1000 genomes]
rs62157914	0.92[ASN][1000 genomes]
rs6543419	0.89[ASN][1000 genomes]
rs6543459	0.92[ASN][1000 genomes]
rs66464436	0.92[ASN][1000 genomes]
rs6715989	0.92[ASN][1000 genomes]
rs6725543	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6742930	0.90[ASN][1000 genomes]
rs6743279	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6747344	0.86[ASN][1000 genomes]
rs6747410	0.87[ASN][1000 genomes]
rs6750975	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6752440	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72819909	0.86[EUR][1000 genomes]
rs72933220	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7572757	0.92[ASN][1000 genomes]
rs7574218	0.89[ASN][1000 genomes]
rs7578802	0.89[ASN][1000 genomes]
rs7589018	0.92[ASN][1000 genomes]
rs7598554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601503	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7606070	0.90[ASN][1000 genomes]
rs937726	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1014147	chr2:98855007-98878044	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv818075	chr2:98855497-98872039	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv582515	chr2:98855497-98885925	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv517669	chr2:98855497-98889961	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv437289	chr2:98855497-98891519	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3459702	chr2:98856083-98886708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3459703	chr2:98856205-98886602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv19987	chr2:98856422-98886491	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1010376	chr2:98858308-98878044	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1008771	chr2:98858308-98881340	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv2760564	chr2:98858308-98881352	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1012433	chr2:98858308-98888391	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1012121	chr2:98858308-98889961	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1005509	chr2:98860142-98878044	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1003683	chr2:98860536-98881340	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv999884	chr2:98861412-98881340	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv3693390	chr2:98862097-98886666	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1013728	chr2:98868824-98881340	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	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	chr2:98869800-98871400	Enhancers	Ovary	ovary
2	chr2:98870200-98871200	Weak transcription	Fetal Brain Female	brain
3	chr2:98871000-98872000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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