Variant report

Variant	rs12999670
Chromosome Location	chr2:210231474-210231475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210229068..210231553-chr2:210286717..210289025,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078018	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11892351	0.90[GIH][hapmap];0.86[YRI][hapmap]
rs12986778	1.00[CEU][hapmap]
rs12998272	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12999884	1.00[CEU][hapmap]
rs13002012	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13007765	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13012322	0.87[EUR][1000 genomes]
rs13022552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13023112	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13032445	0.86[YRI][hapmap]
rs13032935	0.87[EUR][1000 genomes]
rs13036037	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16842834	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16842843	0.86[YRI][hapmap]
rs16842878	0.83[AFR][1000 genomes]
rs16842895	1.00[CEU][hapmap]
rs16842899	1.00[CEU][hapmap]
rs16842900	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16842904	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16842906	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2167933	1.00[CEU][hapmap]
rs34445752	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34565674	1.00[EUR][1000 genomes]
rs34578885	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34811576	0.88[AMR][1000 genomes]
rs34884270	0.88[AMR][1000 genomes]
rs35216876	0.87[EUR][1000 genomes]
rs35347413	0.93[EUR][1000 genomes]
rs35725691	0.82[AFR][1000 genomes]
rs35955770	0.93[EUR][1000 genomes]
rs35978314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59984943	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67917650	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875764	chr2:210195717-210240990	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1014900	chr2:210205050-210235562	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1006636	chr2:210207332-210235562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	4 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	chr2:210231000-210233800	Enhancers	NHEK	skin
2	chr2:210231000-210234600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:210231000-210234800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:210231000-210234800	Enhancers	HMEC	breast

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