Variant report

Variant	rs1518242
Chromosome Location	chr3:144587107-144587108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12630923	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12637876	0.84[ASN][1000 genomes]
rs12695787	0.81[AMR][1000 genomes]
rs13092397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358450	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1533561	0.89[ASN][1000 genomes]
rs1533562	0.89[ASN][1000 genomes]
rs1607353	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1607354	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914634	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1914638	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2889112	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2889113	0.80[ASN][1000 genomes]
rs3938170	0.83[ASN][1000 genomes]
rs4420918	0.83[ASN][1000 genomes]
rs4485763	0.83[ASN][1000 genomes]
rs4681630	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6782506	0.83[ASN][1000 genomes]
rs6789186	0.83[AMR][1000 genomes]
rs6804493	0.86[ASN][1000 genomes]
rs7611778	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7644560	0.83[ASN][1000 genomes]
rs7646183	0.83[ASN][1000 genomes]
rs9289682	0.80[ASN][1000 genomes]
rs940067	0.83[AMR][1000 genomes]
rs9822039	0.86[ASN][1000 genomes]
rs9826226	0.83[AMR][1000 genomes]
rs9842453	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9844072	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9857472	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9857704	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9862354	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9873006	0.82[ASN][1000 genomes]
rs9882434	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3357831	chr3:144433846-144790831	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3405013	chr3:144433866-144790801	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv829746	chr3:144451478-144618224	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv829747	chr3:144463330-144654092	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1005754	chr3:144529346-144984363	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv525344	chr3:144584373-144663231	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144583800-144587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:144584800-144588000	Enhancers	Adipose Nuclei	Adipose
3	chr3:144585000-144588200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:144585400-144587200	Enhancers	Ovary	ovary
5	chr3:144586400-144587600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:144586800-144587200	Weak transcription	NHDF-Ad	bronchial

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