Variant report

Variant	rs12072444
Chromosome Location	chr1:73113191-73113192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:73113182..73114702-chr17:56734945..56736988,2	K562	blood:
2	chr1:73113182..73114702-chr17:56735103..56736837,5	MCF-7	breast:
3	chr1:73113182..73113702-chr17:56736111..56737064,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10465865	1.00[ASN][1000 genomes]
rs10465866	1.00[ASN][1000 genomes]
rs10889967	0.88[AMR][1000 genomes]
rs10889969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889981	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209987	1.00[ASN][1000 genomes]
rs11209989	1.00[ASN][1000 genomes]
rs11209990	0.89[EUR][1000 genomes]
rs11209991	0.89[EUR][1000 genomes]
rs11209992	0.89[EUR][1000 genomes]
rs11209993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209998	0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210000	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210002	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210015	1.00[ASN][1000 genomes]
rs11210016	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210018	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210021	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210022	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11210028	1.00[ASN][1000 genomes]
rs11210036	1.00[ASN][1000 genomes]
rs11210042	1.00[ASN][1000 genomes]
rs11803059	1.00[ASN][1000 genomes]
rs11807168	1.00[ASN][1000 genomes]
rs12062883	1.00[ASN][1000 genomes]
rs12066284	1.00[ASN][1000 genomes]
rs12066923	1.00[ASN][1000 genomes]
rs12070137	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072129	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072443	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073769	1.00[ASN][1000 genomes]
rs12073811	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078724	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082218	1.00[ASN][1000 genomes]
rs12082422	1.00[ASN][1000 genomes]
rs12087633	1.00[ASN][1000 genomes]
rs12087817	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12088885	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12092131	1.00[ASN][1000 genomes]
rs12092187	1.00[ASN][1000 genomes]
rs13352999	1.00[ASN][1000 genomes]
rs1373915	1.00[ASN][1000 genomes]
rs17093152	1.00[ASN][1000 genomes]
rs17093160	1.00[ASN][1000 genomes]
rs17093164	1.00[ASN][1000 genomes]
rs17093275	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17093297	1.00[ASN][1000 genomes]
rs17093299	1.00[ASN][1000 genomes]
rs17093396	1.00[ASN][1000 genomes]
rs2017920	1.00[ASN][1000 genomes]
rs2244679	1.00[ASN][1000 genomes]
rs2244685	1.00[ASN][1000 genomes]
rs2244943	1.00[ASN][1000 genomes]
rs2255220	1.00[ASN][1000 genomes]
rs2255572	1.00[ASN][1000 genomes]
rs2255605	1.00[ASN][1000 genomes]
rs2255606	1.00[ASN][1000 genomes]
rs2255692	1.00[ASN][1000 genomes]
rs2255706	1.00[ASN][1000 genomes]
rs2590940	1.00[ASN][1000 genomes]
rs2841184	1.00[ASN][1000 genomes]
rs28416453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464217	1.00[ASN][1000 genomes]
rs34236777	1.00[ASN][1000 genomes]
rs4595322	1.00[ASN][1000 genomes]
rs4650141	1.00[ASN][1000 genomes]
rs56690886	1.00[ASN][1000 genomes]
rs57867136	1.00[ASN][1000 genomes]
rs59526352	1.00[ASN][1000 genomes]
rs60276726	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61138734	1.00[ASN][1000 genomes]
rs61224710	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61464630	1.00[ASN][1000 genomes]
rs6657668	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690920	1.00[ASN][1000 genomes]
rs6695500	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72942866	1.00[ASN][1000 genomes]
rs72942886	1.00[ASN][1000 genomes]
rs72942900	1.00[ASN][1000 genomes]
rs72944803	1.00[ASN][1000 genomes]
rs72944848	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72946915	1.00[ASN][1000 genomes]
rs72948923	1.00[ASN][1000 genomes]
rs7521173	1.00[ASN][1000 genomes]
rs7536612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326103	1.00[ASN][1000 genomes]
rs9326104	1.00[ASN][1000 genomes]
rs9326105	1.00[ASN][1000 genomes]
rs986381	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv428101	chr1:73017520-73211351	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv871371	chr1:73048685-73152104	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv871636	chr1:73048685-73274919	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2763560	chr1:73077448-73122262	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv871181	chr1:73084221-73305593	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv871282	chr1:73095389-73116491	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv2756845	chr1:73097100-73115205	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv2758940	chr1:73097100-73115205	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73113000-73113200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:73113000-73113400	Enhancers	NHDF-Ad	bronchial
3	chr1:73113000-73113600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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