Variant report

Variant	rs2216259
Chromosome Location	chr7:108015550-108015551
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	chr7:108013080..108015754-chr7:108065360..108068339,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1016149	0.85[EUR][1000 genomes]
rs12531089	0.90[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs12539530	0.90[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs12539964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13230316	0.85[CEU][hapmap];0.83[CHB][hapmap];0.86[EUR][1000 genomes]
rs13244715	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs1990712	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2080489	0.86[EUR][1000 genomes]
rs2284286	0.89[EUR][1000 genomes]
rs2284287	0.86[CEU][hapmap];0.83[CHB][hapmap];0.86[EUR][1000 genomes]
rs2284288	0.86[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs2300027	0.90[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs2395961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34427132	0.85[EUR][1000 genomes]
rs35669142	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36063908	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56102707	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6948554	0.84[EUR][1000 genomes]
rs6975557	0.90[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs7804045	0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108004000-108016600	Weak transcription	Pancreas	Pancrea
2	chr7:108004400-108016600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:108009400-108016600	Weak transcription	Brain Angular Gyrus	brain
4	chr7:108011800-108015800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:108012800-108021000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:108014000-108023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:108014200-108016800	Weak transcription	A549	lung
8	chr7:108014800-108043200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:108015000-108017000	Enhancers	GM12878-XiMat	blood
10	chr7:108015400-108015600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:108015400-108015800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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