Variant report

Variant	rs571691
Chromosome Location	chr1:86431623-86431624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10732722	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1112326	0.87[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1112327	0.87[CHB][hapmap]
rs11161709	0.84[ASN][1000 genomes]
rs11161710	0.87[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs11161711	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs12144570	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs1354245	0.87[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1359421	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1481201	0.87[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1481202	0.81[ASN][1000 genomes]
rs1502657	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1502658	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1502659	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1698733	0.87[CHB][hapmap]
rs1965928	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs313703	0.93[CEU][hapmap]
rs313704	0.93[CEU][hapmap]
rs313706	0.93[CEU][hapmap]
rs4303095	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs4486475	0.87[CHB][hapmap]
rs474832	0.81[ASN][1000 genomes]
rs486726	0.94[CHB][hapmap]
rs489141	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs4912449	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs532186	1.00[CEU][hapmap];0.93[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];0.95[ASN][1000 genomes]
rs559247	0.87[CHB][hapmap]
rs560876	0.87[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs578615	0.94[CHB][hapmap]
rs589698	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs597330	0.94[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs603297	0.87[CHB][hapmap]
rs605060	0.87[CHB][hapmap]
rs631632	0.86[ASN][1000 genomes]
rs647977	0.87[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs6673508	0.94[CHB][hapmap]
rs6699709	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs6702912	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs682964	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs686272	0.83[ASN][1000 genomes]
rs7512890	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7524896	0.84[ASN][1000 genomes]
rs7541806	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs861933	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv462395	chr1:86379514-86457334	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv546726	chr1:86379514-86457334	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv462406	chr1:86412177-86509996	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv546757	chr1:86412177-86509996	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86421400-86441400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:86422800-86442400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86425800-86441200	Weak transcription	Fetal Lung	lung
4	chr1:86426000-86432000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:86429000-86434200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:86429200-86432200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86431600-86433200	Enhancers	GM12878-XiMat	blood
8	chr1:86431600-86437200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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