Variant report

Variant	rs12066268
Chromosome Location	chr1:174594227-174594228
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10489262	1.00[EUR][1000 genomes]
rs10912792	1.00[EUR][1000 genomes]
rs10912794	1.00[EUR][1000 genomes]
rs10912801	1.00[EUR][1000 genomes]
rs10912808	1.00[EUR][1000 genomes]
rs10912809	1.00[EUR][1000 genomes]
rs10912815	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912816	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912818	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912819	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057359	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064144	1.00[EUR][1000 genomes]
rs12066421	1.00[EUR][1000 genomes]
rs12066736	1.00[EUR][1000 genomes]
rs12067772	1.00[EUR][1000 genomes]
rs12067791	1.00[EUR][1000 genomes]
rs12068187	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12069689	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070505	1.00[EUR][1000 genomes]
rs12072909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075213	1.00[EUR][1000 genomes]
rs12077283	1.00[EUR][1000 genomes]
rs12077880	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12078714	1.00[EUR][1000 genomes]
rs12080070	1.00[EUR][1000 genomes]
rs12080242	1.00[EUR][1000 genomes]
rs12088650	1.00[EUR][1000 genomes]
rs12092811	1.00[EUR][1000 genomes]
rs12096717	1.00[EUR][1000 genomes]
rs1231828	1.00[EUR][1000 genomes]
rs12354111	1.00[EUR][1000 genomes]
rs1329280	1.00[EUR][1000 genomes]
rs1612104	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1618234	1.00[EUR][1000 genomes]
rs1653631	1.00[EUR][1000 genomes]
rs1653633	1.00[EUR][1000 genomes]
rs1653637	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847096	1.00[EUR][1000 genomes]
rs16847457	1.00[EUR][1000 genomes]
rs173000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1754356	1.00[EUR][1000 genomes]
rs17838246	1.00[EUR][1000 genomes]
rs189141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2116515	1.00[EUR][1000 genomes]
rs2760059	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2981891	1.00[EUR][1000 genomes]
rs2981895	1.00[EUR][1000 genomes]
rs2987871	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2987878	1.00[EUR][1000 genomes]
rs3018408	0.89[AMR][1000 genomes]
rs3123641	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332766	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332775	1.00[EUR][1000 genomes]
rs332780	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332790	1.00[EUR][1000 genomes]
rs332792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs333419	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs333425	1.00[EUR][1000 genomes]
rs333434	1.00[EUR][1000 genomes]
rs35582650	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs392368	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4290116	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4309037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs454643	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs55659406	1.00[EUR][1000 genomes]
rs56106555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357087	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58238388	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6672781	1.00[EUR][1000 genomes]
rs6696432	1.00[EUR][1000 genomes]
rs6701696	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126848	1.00[EUR][1000 genomes]
rs74126851	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525430	1.00[EUR][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	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv999295	chr1:174457532-174596961	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv534381	chr1:174468168-174656796	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3434296	chr1:174556344-174594264	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174572800-174606200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:174582800-174606400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:174587600-174594600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:174587600-174606600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:174587600-174609200	Weak transcription	Pancreas	Pancrea
6	chr1:174593600-174595200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:174594000-174595200	Weak transcription	Fetal Intestine Large	intestine

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