Variant report

Variant	rs2139089
Chromosome Location	chr11:93750050-93750051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93741108..93743362-chr11:93748550..93751276,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10501813	0.95[ASN][1000 genomes]
rs11820915	0.83[EUR][1000 genomes]
rs11823303	0.85[EUR][1000 genomes]
rs11825709	0.90[ASN][1000 genomes]
rs11828737	0.83[EUR][1000 genomes]
rs1401184	0.95[ASN][1000 genomes]
rs1518560	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518565	0.82[EUR][1000 genomes]
rs1518566	0.82[EUR][1000 genomes]
rs1568259	0.83[EUR][1000 genomes]
rs1589166	0.95[ASN][1000 genomes]
rs1607401	0.95[ASN][1000 genomes]
rs16919810	0.85[EUR][1000 genomes]
rs16919815	0.85[EUR][1000 genomes]
rs16919858	0.81[EUR][1000 genomes]
rs1850656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894165	0.95[ASN][1000 genomes]
rs1894166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1914723	0.83[EUR][1000 genomes]
rs1945786	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1945787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2020351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102857	0.95[ASN][1000 genomes]
rs2176563	0.95[ASN][1000 genomes]
rs2203793	0.95[ASN][1000 genomes]
rs2213108	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2213110	0.93[ASN][1000 genomes]
rs2399749	0.83[EUR][1000 genomes]
rs2399750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2456556	0.89[EUR][1000 genomes]
rs2460049	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460050	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460053	0.95[ASN][1000 genomes]
rs2460064	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460065	0.95[ASN][1000 genomes]
rs2460069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460070	0.95[ASN][1000 genomes]
rs2462733	0.95[ASN][1000 genomes]
rs2462735	0.95[ASN][1000 genomes]
rs2462756	0.94[ASN][1000 genomes]
rs2462757	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2462758	0.95[ASN][1000 genomes]
rs2462759	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2462760	0.94[ASN][1000 genomes]
rs2462763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511381	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511403	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511411	0.95[ASN][1000 genomes]
rs4415716	0.83[EUR][1000 genomes]
rs56355412	0.83[EUR][1000 genomes]
rs56938392	0.94[ASN][1000 genomes]
rs57106172	0.90[ASN][1000 genomes]
rs57586533	0.90[ASN][1000 genomes]
rs57953549	0.84[ASN][1000 genomes]
rs59689949	0.90[ASN][1000 genomes]
rs59793398	0.94[ASN][1000 genomes]
rs66514329	0.95[ASN][1000 genomes]
rs66523751	0.82[ASN][1000 genomes]
rs66538341	0.90[ASN][1000 genomes]
rs66977226	0.90[ASN][1000 genomes]
rs67001808	0.94[ASN][1000 genomes]
rs67243356	0.90[ASN][1000 genomes]
rs67412659	0.94[ASN][1000 genomes]
rs67988338	0.90[ASN][1000 genomes]
rs7107851	0.85[EUR][1000 genomes]
rs72964631	0.94[ASN][1000 genomes]
rs72964645	0.94[ASN][1000 genomes]
rs72964666	0.95[ASN][1000 genomes]
rs72964672	0.81[EUR][1000 genomes]
rs72964674	0.83[EUR][1000 genomes]
rs72964683	0.83[EUR][1000 genomes]
rs72964690	0.83[EUR][1000 genomes]
rs72964693	0.83[EUR][1000 genomes]
rs72966608	0.85[EUR][1000 genomes]
rs72966612	0.83[EUR][1000 genomes]
rs72966637	0.85[EUR][1000 genomes]
rs73551180	0.82[ASN][1000 genomes]
rs73564796	0.94[ASN][1000 genomes]
rs73564799	0.94[ASN][1000 genomes]
rs959342	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs959343	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs978777	0.94[ASN][1000 genomes]
rs989088	0.95[ASN][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	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2139089	HEPHL1	cis	Artery Aorta	GTEx
rs2139089	HEPHL1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93747800-93750400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93749600-93754200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:93749600-93754400	Enhancers	HMEC	breast

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