Variant report

Variant	rs516920
Chromosome Location	chr15:53512630-53512631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10163134	1.00[ASN][1000 genomes]
rs10775152	1.00[ASN][1000 genomes]
rs10851535	1.00[ASN][1000 genomes]
rs10851536	1.00[ASN][1000 genomes]
rs11070964	0.94[ASN][1000 genomes]
rs11070965	1.00[ASN][1000 genomes]
rs11070966	0.91[ASN][1000 genomes]
rs11632242	1.00[ASN][1000 genomes]
rs11632523	1.00[ASN][1000 genomes]
rs11633541	1.00[ASN][1000 genomes]
rs11857258	1.00[ASN][1000 genomes]
rs1211489	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12593169	1.00[ASN][1000 genomes]
rs12901316	1.00[ASN][1000 genomes]
rs12908835	1.00[ASN][1000 genomes]
rs12916160	1.00[ASN][1000 genomes]
rs12916317	1.00[ASN][1000 genomes]
rs1317100	0.98[ASN][1000 genomes]
rs1356861	1.00[ASN][1000 genomes]
rs1520413	0.90[ASN][1000 genomes]
rs17660118	0.88[ASN][1000 genomes]
rs1911687	1.00[ASN][1000 genomes]
rs2048168	0.94[ASN][1000 genomes]
rs2661576	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4109296	0.98[ASN][1000 genomes]
rs4109297	0.97[ASN][1000 genomes]
rs4109298	0.98[ASN][1000 genomes]
rs4265756	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4545759	1.00[ASN][1000 genomes]
rs4551981	1.00[ASN][1000 genomes]
rs4577024	1.00[ASN][1000 genomes]
rs4774653	0.96[ASN][1000 genomes]
rs4774657	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4776119	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776120	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776121	0.89[ASN][1000 genomes]
rs477800	0.98[ASN][1000 genomes]
rs479319	0.85[ASN][1000 genomes]
rs479747	0.98[ASN][1000 genomes]
rs482541	0.98[ASN][1000 genomes]
rs482662	0.90[ASN][1000 genomes]
rs483479	0.90[ASN][1000 genomes]
rs493218	0.96[ASN][1000 genomes]
rs500895	0.84[ASN][1000 genomes]
rs508421	0.98[ASN][1000 genomes]
rs511352	0.96[ASN][1000 genomes]
rs515672	0.96[ASN][1000 genomes]
rs515943	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs523116	0.98[ASN][1000 genomes]
rs524607	0.84[ASN][1000 genomes]
rs534887	0.96[ASN][1000 genomes]
rs535851	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs545164	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs549391	0.98[ASN][1000 genomes]
rs551494	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs553000	0.84[ASN][1000 genomes]
rs558995	0.90[ASN][1000 genomes]
rs559926	0.98[ASN][1000 genomes]
rs565238	0.82[ASN][1000 genomes]
rs566369	0.98[ASN][1000 genomes]
rs566855	0.82[ASN][1000 genomes]
rs572221	0.98[ASN][1000 genomes]
rs577263	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493613	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493614	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493615	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493617	1.00[ASN][1000 genomes]
rs689652	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs689818	0.87[ASN][1000 genomes]
rs690264	0.98[ASN][1000 genomes]
rs690271	0.98[ASN][1000 genomes]
rs690283	0.94[ASN][1000 genomes]
rs690379	0.96[ASN][1000 genomes]
rs690399	0.94[ASN][1000 genomes]
rs690449	0.88[ASN][1000 genomes]
rs690538	0.86[ASN][1000 genomes]
rs7167895	1.00[ASN][1000 genomes]
rs7171938	1.00[ASN][1000 genomes]
rs7172105	1.00[ASN][1000 genomes]
rs8027357	1.00[ASN][1000 genomes]
rs8027387	1.00[ASN][1000 genomes]
rs8027674	0.99[ASN][1000 genomes]
rs8032350	1.00[ASN][1000 genomes]
rs8042542	1.00[ASN][1000 genomes]
rs8043044	1.00[ASN][1000 genomes]
rs9284297	0.99[ASN][1000 genomes]
rs931916	1.00[ASN][1000 genomes]
rs931917	0.93[ASN][1000 genomes]
rs931918	1.00[ASN][1000 genomes]
rs931919	1.00[ASN][1000 genomes]
rs9920052	0.99[ASN][1000 genomes]
rs9920871	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343986	chr15:53284440-53571936	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1037630	chr15:53324645-53708925	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1051634	chr15:53459129-53565627	Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3385784	chr15:53492461-53521900	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53503600-53515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:53510000-53515600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:53512200-53519800	Weak transcription	HepG2	liver

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