Variant report

Variant	rs173000
Chromosome Location	chr1:174705357-174705358
allele	C/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:80)

rs_ID	r²[population]
rs10912801	1.00[EUR][1000 genomes]
rs10912808	1.00[EUR][1000 genomes]
rs10912809	1.00[EUR][1000 genomes]
rs10912815	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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912847	1.00[EUR][1000 genomes]
rs10912851	1.00[EUR][1000 genomes]
rs10912858	1.00[EUR][1000 genomes]
rs10912864	1.00[EUR][1000 genomes]
rs11806870	1.00[EUR][1000 genomes]
rs12057161	1.00[EUR][1000 genomes]
rs12057359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064144	1.00[EUR][1000 genomes]
rs12066268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066421	1.00[EUR][1000 genomes]
rs12067791	1.00[EUR][1000 genomes]
rs12068187	0.81[AMR][1000 genomes]
rs12068625	1.00[EUR][1000 genomes]
rs12069689	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070082	1.00[EUR][1000 genomes]
rs12072909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075193	1.00[EUR][1000 genomes]
rs12077283	1.00[EUR][1000 genomes]
rs12077880	1.00[EUR][1000 genomes]
rs12078714	1.00[EUR][1000 genomes]
rs12080070	1.00[EUR][1000 genomes]
rs12080242	1.00[EUR][1000 genomes]
rs12084999	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	0.85[AFR][1000 genomes];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	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847457	1.00[EUR][1000 genomes]
rs1754356	1.00[EUR][1000 genomes]
rs17838246	1.00[EUR][1000 genomes]
rs189141	0.98[AFR][1000 genomes];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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332766	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332775	1.00[EUR][1000 genomes]
rs332780	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332785	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs332790	1.00[EUR][1000 genomes]
rs332792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs333419	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs333425	1.00[EUR][1000 genomes]
rs333434	1.00[EUR][1000 genomes]
rs35582650	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs454643	0.94[AMR][1000 genomes]
rs55659406	1.00[EUR][1000 genomes]
rs56106555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357087	1.00[EUR][1000 genomes]
rs58238388	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59073370	1.00[EUR][1000 genomes]
rs60283543	1.00[EUR][1000 genomes]
rs6672781	1.00[EUR][1000 genomes]
rs6696432	1.00[EUR][1000 genomes]
rs6701696	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126848	1.00[EUR][1000 genomes]
rs74126851	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74128516	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174678200-174708600	Weak transcription	Primary T cells from cord blood	blood
2	chr1:174678600-174706400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:174696600-174709400	Weak transcription	GM12878-XiMat	blood
4	chr1:174701800-174706400	Weak transcription	Fetal Heart	heart
5	chr1:174704600-174705400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:174704600-174706800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:174704800-174705400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:174705200-174706200	ZNF genes & repeats	Primary B cells from cord blood	blood

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