Variant report

Variant	rs4513649
Chromosome Location	chr5:59522613-59522614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10514887	0.95[TSI][hapmap]
rs10939838	0.81[EUR][1000 genomes]
rs10939839	0.84[TSI][hapmap]
rs11742541	1.00[CHD][hapmap]
rs11743928	1.00[CHD][hapmap];0.85[TSI][hapmap]
rs11745357	0.95[TSI][hapmap]
rs11745887	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186826	0.86[EUR][1000 genomes]
rs12187669	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12188020	1.00[CHD][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs13157125	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177765	0.90[TSI][hapmap]
rs13177799	0.90[TSI][hapmap]
rs13186687	1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs16890455	0.95[TSI][hapmap]
rs16890459	0.90[TSI][hapmap]
rs17376761	0.95[TSI][hapmap]
rs17385322	0.83[EUR][1000 genomes]
rs17442232	0.90[TSI][hapmap]
rs2113071	0.82[EUR][1000 genomes]
rs2961900	0.90[TSI][hapmap]
rs34072532	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34886118	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35381370	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3857299	0.90[TSI][hapmap]
rs4270654	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4577666	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6868695	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868850	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879253	1.00[ASN][1000 genomes]
rs6882049	1.00[ASN][1000 genomes]
rs6889641	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627994	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs71627995	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs71627996	0.86[EUR][1000 genomes]
rs71627997	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627998	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73106785	1.00[ASN][1000 genomes]
rs7709269	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv969225	chr5:59519253-59524138	Weak transcription Enhancers	n/a	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	chr5:59506800-59528000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59520000-59525200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59522400-59523600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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