Variant report

Variant	rs10493514
Chromosome Location	chr1:73380512-73380513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10493513	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210099	0.86[EUR][1000 genomes]
rs11210100	0.86[EUR][1000 genomes]
rs11210101	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11210115	0.81[ASN][1000 genomes]
rs11210118	0.81[ASN][1000 genomes]
rs11210120	0.81[ASN][1000 genomes]
rs11577664	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11803263	0.84[EUR][1000 genomes]
rs12025473	0.85[EUR][1000 genomes]
rs12042865	0.84[EUR][1000 genomes]
rs12117582	0.86[AFR][1000 genomes]
rs12118981	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12122377	0.91[EUR][1000 genomes]
rs12136682	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12137361	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12137741	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12405997	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12724056	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12724536	0.89[EUR][1000 genomes]
rs12745861	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34477433	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35531383	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4233096	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4269731	0.82[EUR][1000 genomes]
rs4298682	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4323658	0.82[ASN][1000 genomes]
rs4328030	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4344272	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4344273	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4409593	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4456055	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4579707	0.89[EUR][1000 genomes]
rs4589057	0.92[EUR][1000 genomes]
rs4592217	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4649972	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4649976	0.81[ASN][1000 genomes]
rs61772284	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61772326	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61774086	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6424507	0.90[EUR][1000 genomes]
rs6667006	0.87[EUR][1000 genomes]
rs6667756	0.85[EUR][1000 genomes]
rs6670428	0.93[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs66820357	0.83[EUR][1000 genomes]
rs6682845	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7516673	0.87[EUR][1000 genomes]
rs7528197	0.81[ASN][1000 genomes]
rs7528791	0.86[EUR][1000 genomes]
rs7536364	0.90[EUR][1000 genomes]
rs7540296	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7540420	0.86[EUR][1000 genomes]
rs9970090	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013549	chr1:73209040-73408373	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012319	chr1:73337418-73547086	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3413041	chr1:73363980-73381345	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73377800-73381000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:73378600-73382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:73380200-73382000	Enhancers	HUES48 Cell Line	embryonic stem cell

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