Variant report

Variant	rs12479113
Chromosome Location	chr2:185067804-185067805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185049732..185051441-chr2:185066416..185068378,2	K562	blood:
2	chr2:185046979..185048851-chr2:185065608..185068607,2	K562	blood:
3	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
4	chr2:185066479..185068495-chr2:185209496..185211402,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10173537	0.81[ASN][1000 genomes]
rs10183564	0.81[ASN][1000 genomes]
rs10931123	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11680969	0.98[ASN][1000 genomes]
rs11686639	0.98[ASN][1000 genomes]
rs11690094	0.98[ASN][1000 genomes]
rs12465090	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12467899	0.81[ASN][1000 genomes]
rs12473688	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12475163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12475925	0.81[ASN][1000 genomes]
rs1255541	0.82[ASN][1000 genomes]
rs1255542	0.82[ASN][1000 genomes]
rs1255548	0.95[ASN][1000 genomes]
rs1255549	0.96[ASN][1000 genomes]
rs12618539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12993216	0.80[ASN][1000 genomes]
rs1350109	0.88[ASN][1000 genomes]
rs1455880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16825569	0.98[ASN][1000 genomes]
rs16825581	0.98[ASN][1000 genomes]
rs16825598	0.80[ASN][1000 genomes]
rs16825655	0.82[ASN][1000 genomes]
rs16825674	0.82[ASN][1000 genomes]
rs2177887	0.86[EUR][1000 genomes]
rs2887423	0.98[ASN][1000 genomes]
rs4666971	0.81[ASN][1000 genomes]
rs55914312	0.98[ASN][1000 genomes]
rs62174978	0.80[ASN][1000 genomes]
rs62176539	0.87[EUR][1000 genomes]
rs62177382	0.98[ASN][1000 genomes]
rs6711541	0.82[ASN][1000 genomes]
rs7585856	0.92[ASN][1000 genomes]
rs7588228	0.81[ASN][1000 genomes]
rs7606514	0.88[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	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
3	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
4	nsv875488	chr2:184975795-185091908	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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
6	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
7	nsv875489	chr2:185039190-185111854	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv525791	chr2:185039190-185114368	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv459977	chr2:185039190-185114368	Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv583994	chr2:185039190-185114368	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1002070	chr2:185043076-185116327	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv875490	chr2:185067733-185198135	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	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	chr2:185067000-185070800	Active TSS	K562	blood

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