Variant report

Variant	rs12185575
Chromosome Location	chr2:53261533-53261534
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10445891	0.82[EUR][1000 genomes]
rs10445934	0.80[EUR][1000 genomes]
rs10496010	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496011	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496013	0.82[EUR][1000 genomes]
rs12185611	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12185634	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446444	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189098	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189105	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189168	1.00[JPT][hapmap]
rs17267700	0.82[EUR][1000 genomes]
rs17267741	1.00[JPT][hapmap]
rs17574042	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357012	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55668463	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55821149	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848336	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225075	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56324526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56328376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57907911	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60181556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61128889	0.82[EUR][1000 genomes]
rs66679327	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66727116	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67280986	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67601045	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67656301	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67942596	0.82[EUR][1000 genomes]
rs72795337	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795345	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72893003	1.00[EUR][1000 genomes]
rs7567956	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1011257	chr2:53212297-53270575	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
4	nsv874139	chr2:53216917-53277205	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
5	nsv581979	chr2:53216917-53288066	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
6	nsv874140	chr2:53218774-53277205	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
7	nsv1000235	chr2:53218841-53290638	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
8	nsv581980	chr2:53219203-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
9	nsv1014197	chr2:53219203-53290638	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
10	nsv581981	chr2:53222962-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
11	nsv581982	chr2:53256694-53295106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53255800-53271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53257400-53262800	Weak transcription	Adipose Nuclei	Adipose
3	chr2:53260000-53263800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:53261000-53262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:53261200-53263400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:53261200-53263600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:53261200-53263600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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