Variant report

Variant	rs58844263
Chromosome Location	chr1:179920463-179920464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179844528..179853403-chr1:179920065..179927793,25	K562	blood:
2	chr1:179908000..179910722-chr1:179917793..179921003,3	MCF-7	breast:
3	chr1:179918538..179920784-chr1:179921787..179924203,3	MCF-7	breast:
4	chr1:179917458..179921569-chr1:179921680..179924847,7	K562	blood:
5	chr1:179848142..179854405-chr1:179919774..179927189,17	MCF-7	breast:
6	chr1:179916956..179919742-chr1:179919883..179921705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143337	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000169905	Chromatin interaction
ENSG00000260360	Chromatin interaction
ENSG00000272906	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494524	0.84[ASN][1000 genomes]
rs12123201	0.84[ASN][1000 genomes]
rs12123560	0.84[ASN][1000 genomes]
rs12130675	0.84[ASN][1000 genomes]
rs12132694	0.84[ASN][1000 genomes]
rs12135751	0.84[ASN][1000 genomes]
rs12139323	0.84[ASN][1000 genomes]
rs12139412	0.84[ASN][1000 genomes]
rs12141817	0.84[ASN][1000 genomes]
rs12144275	0.84[ASN][1000 genomes]
rs12145411	0.84[ASN][1000 genomes]
rs16854997	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16855014	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16855019	0.84[ASN][1000 genomes]
rs16855021	0.84[ASN][1000 genomes]
rs16855022	0.84[ASN][1000 genomes]
rs16855025	0.84[ASN][1000 genomes]
rs16855048	0.84[ASN][1000 genomes]
rs16855049	0.84[ASN][1000 genomes]
rs16855052	0.84[ASN][1000 genomes]
rs16855099	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855103	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855144	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855259	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855286	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16855289	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3856048	0.84[ASN][1000 genomes]
rs41267622	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57165548	0.84[ASN][1000 genomes]
rs58316647	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58463801	0.84[ASN][1000 genomes]
rs58749862	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60064848	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60895715	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60927554	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60976015	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61014689	0.84[ASN][1000 genomes]
rs73032352	0.84[ASN][1000 genomes]
rs73039990	0.84[ASN][1000 genomes]
rs73039999	0.84[ASN][1000 genomes]
rs73040001	0.84[ASN][1000 genomes]
rs7525395	0.85[ASN][1000 genomes]
rs7556630	0.85[ASN][1000 genomes]
rs9699897	0.84[ASN][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	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179919400-179922800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:179919400-179922800	Weak transcription	Hela-S3	cervix
3	chr1:179920000-179921000	Enhancers	Primary B cells from cord blood	blood
4	chr1:179920200-179922800	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:179920400-179920800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:179920400-179921200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:179920400-179922600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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