Variant report

Variant	rs17131478
Chromosome Location	chr1:71357437-71357438
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71350292..71353402-chr1:71355074..71357779,3	MCF-7	breast:
2	chr1:71357369..71360235-chr1:71360695..71362626,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11209707	1.00[CEU][hapmap]
rs11804440	0.92[ASN][1000 genomes]
rs11804767	1.00[CEU][hapmap]
rs11805293	0.81[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11807666	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11808587	0.81[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11808606	0.86[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11809115	0.81[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs13306022	0.92[ASN][1000 genomes]
rs17131479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131487	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs34247575	0.89[ASN][1000 genomes]
rs34580971	0.92[ASN][1000 genomes]
rs34999609	0.85[EUR][1000 genomes]
rs35284022	0.91[ASN][1000 genomes]
rs35327754	0.91[ASN][1000 genomes]
rs35368675	0.85[EUR][1000 genomes]
rs35799180	0.85[EUR][1000 genomes]
rs35946140	0.91[ASN][1000 genomes]
rs35952145	0.92[ASN][1000 genomes]
rs4420040	0.88[CHB][hapmap]
rs57313668	0.90[ASN][1000 genomes]
rs58239962	0.92[ASN][1000 genomes]
rs58659672	0.85[EUR][1000 genomes]
rs60466683	0.92[ASN][1000 genomes]
rs6424405	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs6656636	0.84[AFR][1000 genomes]
rs6663613	1.00[CEU][hapmap]
rs6667891	0.81[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs6669396	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683228	0.81[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs74089104	0.85[EUR][1000 genomes]
rs7530658	0.95[YRI][hapmap]
rs7541092	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv871604	chr1:71353104-71361673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71354600-71357600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:71355600-71358200	Enhancers	Fetal Heart	heart
3	chr1:71355600-71359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:71356400-71359400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:71356600-71358000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:71356600-71358000	Enhancers	HSMMtube	muscle
7	chr1:71356600-71359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:71356600-71359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:71356600-71359200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:71356800-71358200	Enhancers	K562	blood
11	chr1:71356800-71359200	Enhancers	NHDF-Ad	bronchial
12	chr1:71357000-71358000	Weak transcription	Gastric	stomach
13	chr1:71357000-71358200	Weak transcription	Pancreas	Pancrea
14	chr1:71357400-71358000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:71357400-71358800	Weak transcription	Adipose Nuclei	Adipose

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