Variant report

Variant	rs4593794
Chromosome Location	chr1:215402875-215402876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10465665	1.00[EUR][1000 genomes]
rs10864176	1.00[EUR][1000 genomes]
rs11120520	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120521	1.00[EUR][1000 genomes]
rs11120523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120553	1.00[EUR][1000 genomes]
rs11120555	1.00[EUR][1000 genomes]
rs11120556	1.00[EUR][1000 genomes]
rs11120570	1.00[EUR][1000 genomes]
rs11120571	1.00[EUR][1000 genomes]
rs11120572	1.00[EUR][1000 genomes]
rs11120573	1.00[EUR][1000 genomes]
rs11120574	1.00[EUR][1000 genomes]
rs12061570	1.00[EUR][1000 genomes]
rs12070211	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074526	1.00[EUR][1000 genomes]
rs12076291	1.00[EUR][1000 genomes]
rs12076683	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077050	1.00[EUR][1000 genomes]
rs12077731	1.00[EUR][1000 genomes]
rs12077775	1.00[EUR][1000 genomes]
rs12078628	1.00[EUR][1000 genomes]
rs12079873	1.00[EUR][1000 genomes]
rs12080017	1.00[EUR][1000 genomes]
rs12094048	1.00[EUR][1000 genomes]
rs12095159	1.00[EUR][1000 genomes]
rs12239472	1.00[EUR][1000 genomes]
rs12239509	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374480	1.00[EUR][1000 genomes]
rs13374655	1.00[EUR][1000 genomes]
rs1416650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1556904	1.00[EUR][1000 genomes]
rs17024391	1.00[EUR][1000 genomes]
rs17024751	1.00[EUR][1000 genomes]
rs1911547	1.00[EUR][1000 genomes]
rs2363552	1.00[EUR][1000 genomes]
rs2363562	1.00[EUR][1000 genomes]
rs4082520	1.00[EUR][1000 genomes]
rs4082521	1.00[EUR][1000 genomes]
rs4265403	1.00[EUR][1000 genomes]
rs4581247	1.00[EUR][1000 genomes]
rs4633260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5019190	1.00[EUR][1000 genomes]
rs57501351	1.00[EUR][1000 genomes]
rs59473177	1.00[EUR][1000 genomes]
rs60597792	1.00[EUR][1000 genomes]
rs61272547	1.00[EUR][1000 genomes]
rs6678266	1.00[EUR][1000 genomes]
rs6690170	1.00[EUR][1000 genomes]
rs73088281	1.00[EUR][1000 genomes]
rs73088299	1.00[EUR][1000 genomes]
rs73091976	1.00[EUR][1000 genomes]
rs73091981	1.00[EUR][1000 genomes]
rs73091996	1.00[EUR][1000 genomes]
rs7516768	1.00[EUR][1000 genomes]
rs7528816	1.00[EUR][1000 genomes]
rs7550501	1.00[EUR][1000 genomes]
rs950987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
2	nsv873170	chr1:215367248-215440975	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215380600-215408000	Weak transcription	Osteobl	bone
2	chr1:215388600-215408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:215392000-215408000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215394000-215407800	Weak transcription	NHDF-Ad	bronchial

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