Variant report

Variant	rs12129928
Chromosome Location	chr1:179902705-179902706
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179901208..179903781-chr1:179908885..179911377,2	K562	blood:
2	chr1:179901782..179903357-chr1:179905596..179908288,2	K562	blood:
3	chr1:179898573..179901417-chr1:179902522..179905124,2	MCF-7	breast:
4	chr1:179901208..179903839-chr1:179908885..179910627,2	K562	blood:

Variant related genes	Relation type
ENSG00000261831	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10798731	1.00[ASN][1000 genomes]
rs10798733	1.00[ASN][1000 genomes]
rs10913911	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913912	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913915	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913921	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913922	1.00[ASN][1000 genomes]
rs10913926	1.00[ASN][1000 genomes]
rs10913928	1.00[ASN][1000 genomes]
rs10913929	1.00[ASN][1000 genomes]
rs11579402	1.00[ASN][1000 genomes]
rs11589421	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117957	1.00[ASN][1000 genomes]
rs12119113	1.00[ASN][1000 genomes]
rs12120822	1.00[ASN][1000 genomes]
rs12124175	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124336	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127248	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131995	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135952	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138251	1.00[ASN][1000 genomes]
rs12141545	1.00[ASN][1000 genomes]
rs12144757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743903	1.00[ASN][1000 genomes]
rs12744192	1.00[ASN][1000 genomes]
rs3845390	1.00[ASN][1000 genomes]
rs4083553	1.00[ASN][1000 genomes]
rs4652477	1.00[ASN][1000 genomes]
rs4652478	1.00[ASN][1000 genomes]
rs55676403	1.00[ASN][1000 genomes]
rs55882713	1.00[ASN][1000 genomes]
rs56166206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58121876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59953116	1.00[ASN][1000 genomes]
rs61605706	1.00[ASN][1000 genomes]
rs6425605	1.00[ASN][1000 genomes]
rs6693288	1.00[ASN][1000 genomes]
rs6702845	1.00[ASN][1000 genomes]
rs72710619	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72710658	1.00[ASN][1000 genomes]
rs7521701	1.00[ASN][1000 genomes]
rs7521873	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522347	1.00[ASN][1000 genomes]
rs7533903	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538086	1.00[ASN][1000 genomes]
rs7539784	1.00[ASN][1000 genomes]
rs7544962	0.91[AFR][1000 genomes]
rs7550093	1.00[ASN][1000 genomes]
rs7555418	1.00[ASN][1000 genomes]
rs9425862	1.00[ASN][1000 genomes]
rs9425864	1.00[ASN][1000 genomes]
rs9425869	1.00[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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179899600-179905000	Weak transcription	GM12878-XiMat	blood
2	chr1:179902000-179907800	Weak transcription	Stomach Mucosa	stomach
3	chr1:179902200-179906800	Weak transcription	Hela-S3	cervix

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