Variant report

Variant	rs17718385
Chromosome Location	chr5:147433467-147433468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10036261	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10074782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10491341	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10491342	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11948836	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11950029	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952442	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11954011	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11955554	0.89[AFR][1000 genomes]
rs11955612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956309	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11957191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11957744	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11958071	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960620	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12332673	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1363718	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1363719	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1363720	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1422985	0.84[EUR][1000 genomes]
rs1422986	0.84[EUR][1000 genomes]
rs17107575	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107650	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107665	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107672	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107673	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107676	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107680	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17107705	0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17599528	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17641707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17718366	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718420	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718511	0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs17718535	0.84[EUR][1000 genomes]
rs17718737	0.84[EUR][1000 genomes]
rs17774892	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17774947	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17775044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775092	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17775104	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860502	0.84[EUR][1000 genomes]
rs1833769	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2032866	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2052530	0.97[EUR][1000 genomes]
rs2112768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2112769	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287774	0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs2303069	0.84[EUR][1000 genomes]
rs3752677	0.84[EUR][1000 genomes]
rs3777138	0.84[EUR][1000 genomes]
rs4705050	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705051	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5014785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56714312	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56945766	0.84[EUR][1000 genomes]
rs57608902	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58212044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58237290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58359628	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58789871	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58923221	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59133736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59140447	0.84[EUR][1000 genomes]
rs59900981	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60978485	0.84[EUR][1000 genomes]
rs61547850	0.84[EUR][1000 genomes]
rs61612041	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6872206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881420	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891750	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6892970	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6896204	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73269110	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73269112	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73269121	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73271110	0.84[EUR][1000 genomes]
rs73794613	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73794614	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73794615	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73794633	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703112	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7705278	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7706528	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7714069	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7714855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719473	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7721002	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7727019	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7733255	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs953310	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs984836	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9885178	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv933016	chr5:147395849-147453701	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147413600-147434200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147433400-147436600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:147433400-147439000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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