Variant report

Variant	rs1228958
Chromosome Location	chr7:84048018-84048019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1228859	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1228860	0.95[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1228866	0.82[EUR][1000 genomes]
rs1228867	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228868	0.80[EUR][1000 genomes]
rs1228875	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228876	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228878	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228879	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1228880	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1228882	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1228883	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1228909	0.85[EUR][1000 genomes]
rs1228913	0.80[EUR][1000 genomes]
rs1228916	0.80[EUR][1000 genomes]
rs1228933	0.81[EUR][1000 genomes]
rs1228938	0.80[EUR][1000 genomes]
rs1228939	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs1228943	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228944	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228945	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228947	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228948	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228949	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228950	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228951	0.85[EUR][1000 genomes]
rs1228952	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228953	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228954	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1228956	0.87[EUR][1000 genomes]
rs1228959	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228961	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228963	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228965	0.84[EUR][1000 genomes]
rs1228966	0.86[EUR][1000 genomes]
rs1234535	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1234538	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1634605	0.87[EUR][1000 genomes]
rs1634614	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1715510	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1733998	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1733999	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2079352	0.85[EUR][1000 genomes]
rs2428807	0.85[EUR][1000 genomes]
rs2428808	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2527528	0.87[EUR][1000 genomes]
rs2706902	0.85[EUR][1000 genomes]
rs2706907	0.85[EUR][1000 genomes]
rs505758	0.86[CEU][hapmap]
rs530698	0.82[EUR][1000 genomes]
rs561955	0.81[EUR][1000 genomes]
rs62472594	1.00[ASN][1000 genomes]
rs62474863	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs625480	0.82[EUR][1000 genomes]
rs916865	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1023848	chr7:83985028-84101774	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761342	chr7:83985028-84101798	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv534431	chr7:84001059-84138511	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84042800-84051200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:84043000-84052400	Weak transcription	NHDF-Ad	bronchial

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