Variant report

Variant	rs294778
Chromosome Location	chr4:69682555-69682556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10000284	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006590	1.00[ASN][1000 genomes]
rs10010381	0.88[EUR][1000 genomes]
rs10010497	0.88[EUR][1000 genomes]
rs10010915	0.95[ASN][1000 genomes]
rs10019227	0.95[ASN][1000 genomes]
rs10028938	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031653	0.91[ASN][1000 genomes]
rs10032432	0.95[ASN][1000 genomes]
rs10034195	0.95[ASN][1000 genomes]
rs11722451	0.97[EUR][1000 genomes]
rs11724821	0.90[EUR][1000 genomes]
rs11725000	0.87[EUR][1000 genomes]
rs11725119	0.96[EUR][1000 genomes]
rs11725502	0.94[EUR][1000 genomes]
rs11726045	0.86[EUR][1000 genomes]
rs11731269	0.90[EUR][1000 genomes]
rs11734565	0.92[EUR][1000 genomes]
rs11735873	0.89[EUR][1000 genomes]
rs11736654	0.87[EUR][1000 genomes]
rs11737527	0.97[EUR][1000 genomes]
rs11737644	0.99[EUR][1000 genomes]
rs11737672	0.97[EUR][1000 genomes]
rs1902932	0.99[EUR][1000 genomes]
rs2175776	0.87[EUR][1000 genomes]
rs2271513	0.95[ASN][1000 genomes]
rs2331437	0.87[EUR][1000 genomes]
rs2331438	0.87[EUR][1000 genomes]
rs2331439	0.87[EUR][1000 genomes]
rs2331559	0.89[EUR][1000 genomes]
rs28488465	0.95[ASN][1000 genomes]
rs2926036	0.86[EUR][1000 genomes]
rs2926038	0.87[EUR][1000 genomes]
rs2942856	0.87[EUR][1000 genomes]
rs2942857	0.95[ASN][1000 genomes]
rs294759	0.89[EUR][1000 genomes]
rs294762	1.00[ASN][1000 genomes]
rs294763	1.00[ASN][1000 genomes]
rs294766	0.94[ASN][1000 genomes]
rs294767	1.00[ASN][1000 genomes]
rs294768	1.00[ASN][1000 genomes]
rs294770	0.89[EUR][1000 genomes]
rs294773	1.00[ASN][1000 genomes]
rs294775	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294776	0.91[AFR][1000 genomes]
rs34100980	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422548	0.91[ASN][1000 genomes]
rs56068220	0.88[EUR][1000 genomes]
rs57504651	0.88[EUR][1000 genomes]
rs58813047	0.88[EUR][1000 genomes]
rs59226493	0.95[ASN][1000 genomes]
rs61749966	1.00[EUR][1000 genomes]
rs61750900	1.00[EUR][1000 genomes]
rs6600854	0.89[EUR][1000 genomes]
rs6600855	0.89[EUR][1000 genomes]
rs6815169	0.91[ASN][1000 genomes]
rs6815399	0.90[EUR][1000 genomes]
rs6830149	0.89[EUR][1000 genomes]
rs6832857	1.00[ASN][1000 genomes]
rs6834626	0.91[ASN][1000 genomes]
rs6836520	0.99[EUR][1000 genomes]
rs72846859	0.92[EUR][1000 genomes]
rs72848040	0.86[EUR][1000 genomes]
rs72848056	0.87[EUR][1000 genomes]
rs73823936	0.95[ASN][1000 genomes]
rs73823942	1.00[ASN][1000 genomes]
rs73823943	1.00[ASN][1000 genomes]
rs7657958	1.00[EUR][1000 genomes]
rs7658577	0.89[EUR][1000 genomes]
rs7660491	0.96[EUR][1000 genomes]
rs7661050	0.89[EUR][1000 genomes]
rs7665996	0.89[EUR][1000 genomes]
rs7671312	0.97[EUR][1000 genomes]
rs7673881	0.87[ASN][1000 genomes]
rs7674919	0.89[EUR][1000 genomes]
rs7676146	1.00[EUR][1000 genomes]
rs7676529	0.99[EUR][1000 genomes]
rs7678526	0.82[EUR][1000 genomes]
rs7681961	0.87[ASN][1000 genomes]
rs7685333	1.00[EUR][1000 genomes]
rs7687582	0.87[ASN][1000 genomes]
rs7687748	0.89[EUR][1000 genomes]
rs7687951	0.89[EUR][1000 genomes]
rs7698940	0.89[EUR][1000 genomes]
rs835308	1.00[ASN][1000 genomes]
rs835309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs835310	1.00[ASN][1000 genomes]
rs835313	1.00[ASN][1000 genomes]
rs835314	1.00[ASN][1000 genomes]
rs835315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835316	0.92[EUR][1000 genomes]
rs835317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835318	1.00[ASN][1000 genomes]
rs835319	1.00[ASN][1000 genomes]
rs844342	0.86[EUR][1000 genomes]
rs861340	0.88[EUR][1000 genomes]
rs9329034	0.86[EUR][1000 genomes]
rs9993124	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993496	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv829961	chr4:69592847-69695467	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594580	chr4:69629425-69706273	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv879377	chr4:69663003-69771935	Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1005777	chr4:69665571-69713817	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869970	chr4:69665769-69713522	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1007851	chr4:69667996-69713817	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2760902	chr4:69668008-69723767	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004225	chr4:69670507-69707300	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1003090	chr4:69670507-69708718	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1012268	chr4:69670507-69709072	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1009628	chr4:69670507-69713817	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv2421961	chr4:69671302-69709072	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1006812	chr4:69671377-69708718	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv879378	chr4:69673775-69771935	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv15609	chr4:69678187-69717872	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1007139	chr4:69678883-69713817	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv998687	chr4:69678883-69717203	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1001923	chr4:69678883-69737036	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv441886	chr4:69678895-69717215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv980211	chr4:69679045-69697777	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv3692825	chr4:69679570-69715945	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69681000-69682600	Enhancers	A549	lung
2	chr4:69681600-69684000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:69681800-69682600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:69681800-69682600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:69681800-69683000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:69681800-69683000	Flanking Active TSS	HepG2	liver
7	chr4:69681800-69684600	Active TSS	Liver	Liver
8	chr4:69682200-69682800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:69682400-69682600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr4:69682400-69682800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:69682400-69682800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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