Variant report

Variant	rs514287
Chromosome Location	chr3:146210653-146210654
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146210468..146212270-chr3:146218804..146221427,2	MCF-7	breast:
2	chr3:146208157..146210968-chr3:146212553..146216425,3	K562	blood:

Variant related genes	Relation type
ENSG00000163746	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1054736	0.89[ASN][1000 genomes]
rs11707383	0.80[ASN][1000 genomes]
rs11708619	0.83[ASN][1000 genomes]
rs11716510	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11916950	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13065970	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35102814	0.85[ASN][1000 genomes]
rs35296568	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35783134	0.89[ASN][1000 genomes]
rs36067998	0.80[ASN][1000 genomes]
rs3732746	0.83[EUR][1000 genomes]
rs4681324	0.88[ASN][1000 genomes]
rs473794	0.95[ASN][1000 genomes]
rs474803	0.95[ASN][1000 genomes]
rs488053	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs491900	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498201	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs500995	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506974	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs512259	0.92[EUR][1000 genomes]
rs512845	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs523849	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs524720	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs527708	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs533625	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs534092	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs536474	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536619	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs536737	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546430	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs557809	0.95[ASN][1000 genomes]
rs56111687	0.80[ASN][1000 genomes]
rs563385	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs568302	0.92[ASN][1000 genomes]
rs575834	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62274675	0.83[ASN][1000 genomes]
rs6764342	0.80[ASN][1000 genomes]
rs968634	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs968635	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877622	chr3:146131961-146219740	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3448053	chr3:146186791-146262066	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3523751	chr3:146186838-146261806	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv3523753	chr3:146186838-146261806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2496437	chr3:146186902-146262961	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3416587	chr3:146191303-146222138	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146209800-146210800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:146210000-146211000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:146210000-146211000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:146210000-146211000	Weak transcription	Hela-S3	cervix
5	chr3:146210000-146211000	Weak transcription	NHDF-Ad	bronchial
6	chr3:146210000-146213000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:146210000-146213600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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