Variant report

Variant	rs2789572
Chromosome Location	chr1:217147135-217147136
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	chr1:217145233..217147235-chr1:217149077..217150789,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1030854	0.85[EUR][1000 genomes]
rs1030855	0.85[EUR][1000 genomes]
rs10492959	0.85[EUR][1000 genomes]
rs11117734	0.85[EUR][1000 genomes]
rs11117736	0.85[EUR][1000 genomes]
rs11117739	0.90[EUR][1000 genomes]
rs11117740	0.90[EUR][1000 genomes]
rs11117741	0.91[EUR][1000 genomes]
rs1339221	0.94[ASN][1000 genomes]
rs2576197	0.91[EUR][1000 genomes]
rs2576199	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2576200	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2576208	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576226	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2576227	0.90[EUR][1000 genomes]
rs2576228	0.90[EUR][1000 genomes]
rs2576229	0.90[EUR][1000 genomes]
rs2576230	0.90[EUR][1000 genomes]
rs2789557	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789558	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789560	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2818755	0.90[EUR][1000 genomes]
rs2818757	0.89[EUR][1000 genomes]
rs2818758	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2818768	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2818769	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2818772	0.99[ASN][1000 genomes]
rs2818773	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2818789	0.90[EUR][1000 genomes]
rs2818790	0.90[EUR][1000 genomes]
rs2818791	0.91[EUR][1000 genomes]
rs2818792	0.90[EUR][1000 genomes]
rs2818793	0.90[EUR][1000 genomes]
rs2818794	0.90[EUR][1000 genomes]
rs2818795	0.90[EUR][1000 genomes]
rs2818797	0.90[EUR][1000 genomes]
rs2818798	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2818799	0.90[EUR][1000 genomes]
rs2818800	0.90[EUR][1000 genomes]
rs2818801	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3000609	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098286	0.90[EUR][1000 genomes]
rs3098287	0.90[EUR][1000 genomes]
rs3122530	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	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region 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	chr1:217143800-217149000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:217144600-217147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:217146800-217147600	Weak transcription	Right Ventricle	heart

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