Variant report

Variant	rs2330571
Chromosome Location	chr5:44740589-44740590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:44566070..44567053-chr5:44740584..44741688,3	MCF-7	breast:
2	chr5:44738641..44741209-chr5:44744328..44746903,2	MCF-7	breast:
3	chr5:44536249..44537230-chr5:44740478..44741510,4	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10512866	0.88[EUR][1000 genomes]
rs13153426	0.88[EUR][1000 genomes]
rs13163070	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13165641	0.88[EUR][1000 genomes]
rs13165992	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13167593	0.80[EUR][1000 genomes]
rs13172191	0.88[EUR][1000 genomes]
rs13173899	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13180428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187122	0.88[EUR][1000 genomes]
rs13187187	0.88[EUR][1000 genomes]
rs16901939	0.88[EUR][1000 genomes]
rs16901954	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16901958	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16901986	0.88[EUR][1000 genomes]
rs16901987	0.88[EUR][1000 genomes]
rs34098474	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34133773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34172556	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34216230	0.88[EUR][1000 genomes]
rs34282174	0.88[EUR][1000 genomes]
rs34544432	0.88[EUR][1000 genomes]
rs34918593	0.88[EUR][1000 genomes]
rs34942360	0.88[EUR][1000 genomes]
rs35278372	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35472604	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35534193	0.88[EUR][1000 genomes]
rs35564441	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35842403	0.88[EUR][1000 genomes]
rs35850760	0.88[EUR][1000 genomes]
rs35868527	0.88[EUR][1000 genomes]
rs36163058	0.88[EUR][1000 genomes]
rs58871041	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60303396	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60772043	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6860030	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869608	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6870104	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6870510	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6876888	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6877454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6881573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882983	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6893211	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7710153	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7726555	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7735466	0.92[AMR][1000 genomes];0.88[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	nsv880457	chr5:44632008-44800665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44740400-44740600	Flanking Active TSS	Ovary	ovary

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