Variant report

Variant	rs12473688
Chromosome Location	chr2:185033470-185033471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185032130..185034735-chr2:185068262..185070242,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10173537	0.80[ASN][1000 genomes]
rs10183564	0.80[ASN][1000 genomes]
rs10931123	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11680969	0.99[ASN][1000 genomes]
rs11686639	0.99[ASN][1000 genomes]
rs11690094	0.98[ASN][1000 genomes]
rs12465090	0.81[ASN][1000 genomes]
rs12467899	0.80[ASN][1000 genomes]
rs12475163	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12475925	0.80[ASN][1000 genomes]
rs12479113	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255541	0.81[ASN][1000 genomes]
rs1255542	0.81[ASN][1000 genomes]
rs1255548	0.94[ASN][1000 genomes]
rs1255549	0.95[ASN][1000 genomes]
rs12618539	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1350109	0.87[ASN][1000 genomes]
rs1455880	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16825569	0.99[ASN][1000 genomes]
rs16825581	0.99[ASN][1000 genomes]
rs16825598	0.81[ASN][1000 genomes]
rs16825655	0.81[ASN][1000 genomes]
rs16825674	0.81[ASN][1000 genomes]
rs2177887	0.89[EUR][1000 genomes]
rs2887423	0.99[ASN][1000 genomes]
rs4666971	0.80[ASN][1000 genomes]
rs55914312	0.98[ASN][1000 genomes]
rs62176539	0.90[EUR][1000 genomes]
rs62177382	0.99[ASN][1000 genomes]
rs6711541	0.81[ASN][1000 genomes]
rs7585856	0.91[ASN][1000 genomes]
rs7588228	0.80[ASN][1000 genomes]
rs7606514	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875487	chr2:184737282-185186670	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv834482	chr2:184939548-185066635	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv998904	chr2:184955270-185318483	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1012174	chr2:184956114-185316664	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875488	chr2:184975795-185091908	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv459976	chr2:184995947-185067733	ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv583993	chr2:184995947-185316457	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1005172	chr2:185014650-185055727	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1002494	chr2:185014650-185060167	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1003005	chr2:185014650-185064830	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1004058	chr2:185016301-185064830	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv520954	chr2:185030292-185067733	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185033400-185034400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:185033400-185034600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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