Variant report

Variant	rs12993397
Chromosome Location	chr2:177645948-177645949
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177632631..177635766-chr2:177643014..177646486,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10177590	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10178007	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10187286	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10190557	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10200938	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11674129	0.81[CEU][hapmap]
rs11678055	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11681760	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11688079	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11688181	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11692259	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1251032	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1251033	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1251034	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1251035	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12693106	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs12991908	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12993530	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12999377	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13019320	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13021258	0.92[CEU][hapmap];0.90[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap]
rs1398975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1398976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2028188	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2203300	1.00[MEX][hapmap]
rs2670674	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2696970	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34652621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4021395	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4021396	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7562010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7581696	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601006	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601248	0.89[AMR][1000 genomes];1.00[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	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177628800-177655400	Weak transcription	Ovary	ovary
2	chr2:177644000-177649600	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:177644200-177649000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:177645800-177647000	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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