Variant report

Variant	rs313747
Chromosome Location	chr1:86278754-86278755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86278102..86279954-chr1:86282044..86284732,2	K562	blood:
2	chr1:86278454..86281211-chr1:86282044..86284613,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1072508	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1072509	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11161696	0.85[ASN][1000 genomes]
rs11161697	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1564516	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs186376	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2892901	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs313698	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs313700	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs313703	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs313704	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs313706	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs313708	0.86[ASN][1000 genomes]
rs313748	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs313758	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313759	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313763	0.86[ASN][1000 genomes]
rs313773	0.86[ASN][1000 genomes]
rs435007	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs629140	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6576793	0.95[AFR][1000 genomes];0.87[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86275200-86282000	Weak transcription	Fetal Lung	lung
2	chr1:86276400-86280200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:86276400-86284200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:86277000-86279000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:86278600-86279600	Weak transcription	Primary hematopoietic stem cells	blood

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