Variant report

Variant	rs55914312
Chromosome Location	chr2:185043505-185043506
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	chr2:185030293..185033303-chr2:185042017..185046003,4	K562	blood:
2	chr2:185030205..185032507-chr2:185041818..185044084,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10173537	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10183564	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10931123	0.80[ASN][1000 genomes]
rs11679033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11680969	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11686639	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11690094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473688	0.98[ASN][1000 genomes]
rs12475163	0.82[ASN][1000 genomes]
rs12479113	0.98[ASN][1000 genomes]
rs1255541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255547	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1255548	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1255549	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12618539	0.82[ASN][1000 genomes]
rs1350109	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1455880	0.82[ASN][1000 genomes]
rs16825569	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16825581	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16825598	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16825655	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16825674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2887423	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58809836	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62174978	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62177382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6711541	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6722054	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7585856	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7596901	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7606514	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
13	nsv1002838	chr2:185035277-185289130	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
14	nsv875489	chr2:185039190-185111854	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv525791	chr2:185039190-185114368	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv459977	chr2:185039190-185114368	Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv583994	chr2:185039190-185114368	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1002070	chr2:185043076-185116327	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185043000-185043800	Enhancers	Hela-S3	cervix

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