Variant report

Variant	rs58513956
Chromosome Location	chr3:19255110-19255111
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	chr3:19254480..19256922-chr3:19986686..19989179,2	K562	blood:

Variant related genes	Relation type
ENSG00000144566	Chromatin interaction
ENSG00000163576	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11914359	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11914411	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11914725	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11917668	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11918112	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11918475	0.91[AFR][1000 genomes]
rs11918533	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11918685	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11920737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11922065	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11923068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11923157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11923699	0.91[AFR][1000 genomes]
rs11924695	0.89[AMR][1000 genomes]
rs11925978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11926139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11926160	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11926638	0.89[AFR][1000 genomes]
rs11927892	0.91[AFR][1000 genomes]
rs11927919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11927932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11929014	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12107999	0.89[AFR][1000 genomes]
rs17005744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005767	0.89[AMR][1000 genomes]
rs17005770	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005771	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2047114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28412409	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28695535	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34182590	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56751850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56837808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57014064	0.91[AFR][1000 genomes]
rs57104291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57610409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57735869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57977512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58432712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59046749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59107989	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59618440	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59766102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59995793	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60043706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60067149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60257203	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60315709	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61132235	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61169657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61293006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7427253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7427756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7433172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7610439	0.81[AFR][1000 genomes]
rs7610550	0.91[AFR][1000 genomes]
rs7629339	0.89[AMR][1000 genomes]
rs7634160	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7644590	0.91[AFR][1000 genomes]
rs7652959	0.89[AMR][1000 genomes]
rs7652964	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517847	chr3:18845347-19483695	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19244600-19255200	Weak transcription	Brain Angular Gyrus	brain
2	chr3:19249400-19255400	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:19251400-19257600	Weak transcription	Brain Anterior Caudate	brain
4	chr3:19251800-19255400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:19253800-19255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:19254000-19255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:19254400-19255600	Enhancers	Brain Substantia Nigra	brain
8	chr3:19254800-19257200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:19255000-19255600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:19255000-19255600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:19255000-19255600	Enhancers	Primary B cells from peripheral blood	blood

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