Variant report

Variant	rs517178
Chromosome Location	chr13:30215291-30215292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30214449..30216128-chr13:30220444..30222656,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1093780	0.84[AFR][1000 genomes]
rs2137398	0.84[AFR][1000 genomes]
rs2263207	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2669028	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2776418	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs280905	0.84[ASN][1000 genomes]
rs280907	0.84[ASN][1000 genomes]
rs280908	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs280941	0.94[ASN][1000 genomes]
rs280942	0.98[ASN][1000 genomes]
rs280943	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs280944	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs280945	0.96[ASN][1000 genomes]
rs482876	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs489679	0.84[ASN][1000 genomes]
rs524368	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs529739	0.84[ASN][1000 genomes]
rs535141	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs538385	0.83[ASN][1000 genomes]
rs550984	0.84[ASN][1000 genomes]
rs563630	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs566736	0.98[ASN][1000 genomes]
rs570095	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs571899	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs590377	0.89[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs606753	0.98[ASN][1000 genomes]
rs626702	0.84[AFR][1000 genomes]
rs630273	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[ASN][1000 genomes]
rs648326	0.84[ASN][1000 genomes]
rs819107	0.84[AFR][1000 genomes]
rs819400	0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs819401	0.88[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs9506207	0.90[ASN][1000 genomes]
rs9508515	0.93[ASN][1000 genomes]
rs9551710	0.91[ASN][1000 genomes]
rs9551714	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[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	nsv528336	chr13:30194288-30226498	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv980	chr13:30200197-30236915	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3411311	chr13:30214552-30218450	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3422004	chr13:30214852-30223050	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2638055	chr13:30215014-30222317	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30214800-30215600	Enhancers	HUVEC	blood vessel

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