Variant report

Variant	rs12478574
Chromosome Location	chr2:99476369-99476370
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	chr2:99468266..99471087-chr2:99473957..99476591,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10175560	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10192266	0.82[EUR][1000 genomes]
rs11123756	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11900176	0.84[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11900524	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12467504	0.84[EUR][1000 genomes]
rs12474283	0.81[CEU][hapmap]
rs12712033	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs12712034	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12712037	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12712039	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12712040	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12712042	0.81[EUR][1000 genomes]
rs12990579	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13004700	0.81[CEU][hapmap]
rs13005124	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs13005148	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13006398	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13024838	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13028500	0.92[CEU][hapmap]
rs1581249	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17758170	0.96[CEU][hapmap];0.89[CHB][hapmap];0.92[EUR][1000 genomes]
rs1878589	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1949424	0.92[EUR][1000 genomes]
rs1962029	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4311103	0.88[CEU][hapmap]
rs4499468	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553869	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4850890	0.81[EUR][1000 genomes]
rs4851174	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs4851175	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4851176	0.81[EUR][1000 genomes]
rs6542837	0.80[EUR][1000 genomes]
rs6542841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542845	0.81[EUR][1000 genomes]
rs6704682	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6724477	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6739097	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs6741166	0.92[EUR][1000 genomes]
rs6742047	0.81[EUR][1000 genomes]
rs6752025	0.93[EUR][1000 genomes]
rs6755640	0.81[EUR][1000 genomes]
rs6757098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7423519	0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7565510	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7565614	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7565736	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7565819	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7588441	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7590596	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593332	0.92[EUR][1000 genomes]
rs7608889	0.82[CEU][hapmap]
rs883773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs885115	0.81[EUR][1000 genomes]
rs925887	0.87[CEU][hapmap]

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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr2:99463400-99485400	Weak transcription	Gastric	stomach
2	chr2:99476200-99478200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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