Variant report

Variant	rs1472250
Chromosome Location	chr8:111647664-111647665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:111632530..111634212-chr8:111646106..111648334,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089323	1.00[ASW][hapmap];0.95[CEU][hapmap];0.84[CHB][hapmap];0.92[GIH][hapmap];0.85[LWK][hapmap];0.91[TSI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10101713	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10104068	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505145	0.94[ASN][1000 genomes]
rs10955540	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955541	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11987363	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11987479	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11994475	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11994670	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12681997	0.91[ASN][1000 genomes]
rs13248717	0.84[CHB][hapmap];0.82[GIH][hapmap]
rs13256323	0.94[ASN][1000 genomes]
rs13256485	0.94[ASN][1000 genomes]
rs1353208	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1494242	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16880919	0.84[CHB][hapmap]
rs1845420	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2351182	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4275208	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4386954	0.84[CHB][hapmap]
rs6469317	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7007361	0.84[CHB][hapmap]
rs720966	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7846310	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9297434	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024499	chr8:111190482-111691474	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539717	chr8:111190482-111691474	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv611882	chr8:111342240-111722469	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1031119	chr8:111367939-111720763	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891291	chr8:111462136-111681660	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv891292	chr8:111478321-111673039	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv831422	chr8:111578949-111755170	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1027659	chr8:111585843-111875753	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025390	chr8:111605571-111806020	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv539718	chr8:111605571-111806020	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:111641800-111648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:111647600-111648000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:111647600-111648400	Enhancers	HMEC	breast
4	chr8:111647600-111648600	Enhancers	Muscle Satellite Cultured Cells	--

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