Variant report

Variant	rs4865761
Chromosome Location	chr5:49451123-49451124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10054827	0.94[AMR][1000 genomes]
rs10057362	0.83[AMR][1000 genomes]
rs10062087	0.83[AMR][1000 genomes]
rs10067381	0.93[AMR][1000 genomes]
rs10471767	0.90[AMR][1000 genomes]
rs10471784	0.89[AMR][1000 genomes]
rs10940090	0.88[AMR][1000 genomes]
rs10940514	0.89[AMR][1000 genomes]
rs10940520	0.89[AMR][1000 genomes]
rs10940533	0.89[AMR][1000 genomes]
rs10940646	0.90[AMR][1000 genomes]
rs11514621	0.81[AMR][1000 genomes]
rs11742067	0.83[AMR][1000 genomes]
rs11748483	0.92[AMR][1000 genomes]
rs11950947	0.90[AMR][1000 genomes]
rs11953016	0.88[AMR][1000 genomes]
rs12515555	0.89[AMR][1000 genomes]
rs12521333	0.81[AMR][1000 genomes]
rs12521903	0.89[AMR][1000 genomes]
rs13160767	0.90[AMR][1000 genomes]
rs13175165	0.89[AMR][1000 genomes]
rs13178037	0.84[AMR][1000 genomes]
rs13358828	0.82[AMR][1000 genomes]
rs2125456	0.82[AMR][1000 genomes]
rs2168920	0.82[AMR][1000 genomes]
rs2199089	0.81[AMR][1000 genomes]
rs2219451	0.81[AMR][1000 genomes]
rs2219452	0.81[AMR][1000 genomes]
rs2219453	0.80[AMR][1000 genomes]
rs35295454	0.87[AMR][1000 genomes]
rs4250105	0.92[AMR][1000 genomes]
rs4250165	0.88[AMR][1000 genomes]
rs4302633	0.84[AMR][1000 genomes]
rs4305678	0.85[AMR][1000 genomes]
rs4308516	0.85[AMR][1000 genomes]
rs4379243	0.89[AMR][1000 genomes]
rs4415115	0.89[AMR][1000 genomes]
rs4554275	0.81[AMR][1000 genomes]
rs4865549	0.81[AMR][1000 genomes]
rs4865551	0.85[AMR][1000 genomes]
rs4865567	0.89[AMR][1000 genomes]
rs4865637	0.81[AMR][1000 genomes]
rs4865722	0.88[AMR][1000 genomes]
rs4865723	0.86[AMR][1000 genomes]
rs4865728	0.82[AMR][1000 genomes]
rs4865778	0.88[AMR][1000 genomes]
rs4865799	0.91[AMR][1000 genomes]
rs4865801	0.88[AMR][1000 genomes]
rs531198	0.80[AMR][1000 genomes]
rs534123	0.82[AMR][1000 genomes]
rs559096	0.80[AMR][1000 genomes]
rs7293339	0.80[AMR][1000 genomes]
rs7293348	0.84[AMR][1000 genomes]
rs7293351	0.80[AMR][1000 genomes]
rs7293410	0.89[AMR][1000 genomes]
rs7293414	0.85[AMR][1000 genomes]
rs7293432	0.82[AMR][1000 genomes]
rs8185119	0.89[AMR][1000 genomes]
rs8185347	0.83[AMR][1000 genomes]
rs8188146	0.88[AMR][1000 genomes]
rs8188195	0.80[AMR][1000 genomes]
rs8188210	0.82[AMR][1000 genomes]
rs8188289	0.89[AMR][1000 genomes]
rs9688065	0.87[AMR][1000 genomes]
rs9688258	0.89[AMR][1000 genomes]
rs9800133	0.83[AMR][1000 genomes]
rs9800135	0.90[AMR][1000 genomes]
rs9800240	0.83[AMR][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	esv19415	chr5:49405763-49485157	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
2	nsv820439	chr5:49405763-49552643	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv15107	chr5:49405763-49562327	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2760950	chr5:49432831-49624358	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv598089	chr5:49441601-49547088	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv598090	chr5:49441966-49514368	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
7	nsv598091	chr5:49441966-49547088	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv830285	chr5:49445361-49527825	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv598092	chr5:49448027-49514368	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4865761	EMB	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49447800-49451200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:49447800-49451200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr5:49450400-49451200	Active TSS	Aorta	Aorta
4	chr5:49451000-49456000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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