Variant report

Variant	rs313759
Chromosome Location	chr1:86283384-86283385
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86278102..86279954-chr1:86282044..86284732,2	K562	blood:
2	chr1:86263300..86265589-chr1:86281895..86284677,2	K562	blood:
3	chr1:86278454..86281211-chr1:86282044..86284613,2	K562	blood:
4	chr1:86282182..86284490-chr1:86287465..86289002,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1072508	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs1072509	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs10873730	0.95[CHB][hapmap]
rs10873731	0.81[CHB][hapmap]
rs11161693	0.87[CHB][hapmap]
rs11161695	0.86[CHB][hapmap]
rs11161696	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11161697	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs12029238	0.91[CHB][hapmap]
rs1564516	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs17411495	0.91[CHB][hapmap]
rs186376	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1904947	0.91[CHB][hapmap]
rs193398	0.83[CEU][hapmap]
rs2892901	0.85[ASN][1000 genomes]
rs313698	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs313700	0.98[ASN][1000 genomes]
rs313701	0.87[CHB][hapmap]
rs313702	0.86[CHB][hapmap]
rs313703	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs313704	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[ASN][1000 genomes]
rs313705	0.86[CHB][hapmap]
rs313706	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs313707	0.87[CHB][hapmap]
rs313708	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs313709	0.86[CHB][hapmap]
rs313733	0.83[CEU][hapmap]
rs313735	0.85[CEU][hapmap]
rs313738	0.95[CHB][hapmap]
rs313740	0.91[CHB][hapmap]
rs313741	0.91[CHB][hapmap]
rs313742	0.91[CHB][hapmap]
rs313746	0.91[CHB][hapmap]
rs313747	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313748	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313756	0.91[CHB][hapmap]
rs313757	0.95[CHB][hapmap]
rs313758	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]
rs313763	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs313769	0.91[CHB][hapmap]
rs313770	0.91[CHB][hapmap]
rs313771	0.91[CHB][hapmap]
rs313773	0.86[ASN][1000 genomes]
rs313775	0.91[CHB][hapmap]
rs412328	0.83[CEU][hapmap]
rs428475	0.91[CHB][hapmap]
rs432168	0.85[CEU][hapmap]
rs435007	0.86[ASN][1000 genomes]
rs437257	0.91[CHB][hapmap]
rs482789	0.81[CHB][hapmap]
rs537408	0.82[CHB][hapmap]
rs629140	0.86[ASN][1000 genomes]
rs6576793	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.87[ASN][1000 genomes]
rs673506	0.83[CEU][hapmap]
rs7524286	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7536101	0.86[CHB][hapmap]

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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86276400-86284200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:86279600-86283600	Strong transcription	Primary hematopoietic stem cells	blood
3	chr1:86279800-86284600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86280000-86296600	Weak transcription	GM12878-XiMat	blood
5	chr1:86281600-86284200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86282000-86284000	Strong transcription	Fetal Lung	lung
7	chr1:86282200-86283400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:86282200-86283600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:86282800-86284400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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