Variant report

Variant	rs6693669
Chromosome Location	chr1:86287580-86287581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86278878..86280687-chr1:86286928..86289556,2	K562	blood:
2	chr1:86211855..86213533-chr1:86285001..86287776,2	K562	blood:
3	chr1:86282182..86284490-chr1:86287465..86289002,2	MCF-7	breast:
4	chr1:86283869..86285851-chr1:86286499..86288640,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1010058	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs10873722	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10873723	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10873725	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11161676	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11161677	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161678	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161682	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11161684	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161685	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161686	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11161687	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11579570	0.84[ASN][1000 genomes]
rs11590890	0.84[ASN][1000 genomes]
rs12077825	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12088004	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12091583	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12098168	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119620	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12128605	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12145864	0.98[EUR][1000 genomes]
rs12727784	1.00[CHD][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs12727916	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12735553	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12745753	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12746325	1.00[CHD][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs12753056	0.84[ASN][1000 genomes]
rs12760458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1325260	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1481199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842579	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2297744	0.94[EUR][1000 genomes]
rs4912437	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912446	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576790	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6576791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576792	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6677315	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698139	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698633	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7539262	0.84[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	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
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1011293	chr1:86270649-86416972	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86280000-86296600	Weak transcription	GM12878-XiMat	blood
2	chr1:86283600-86296400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86284000-86296400	Weak transcription	Fetal Lung	lung
4	chr1:86284200-86296400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:86284200-86296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86284600-86288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86287000-86288400	Enhancers	Adipose Nuclei	Adipose
8	chr1:86287200-86287600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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