Variant report

Variant	rs2456556
Chromosome Location	chr11:93707642-93707643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11823785	0.81[EUR][1000 genomes]
rs11823836	0.82[EUR][1000 genomes]
rs1518560	0.89[EUR][1000 genomes]
rs1518573	0.84[EUR][1000 genomes]
rs1850656	0.89[EUR][1000 genomes]
rs1894166	0.86[EUR][1000 genomes]
rs1945786	0.89[EUR][1000 genomes]
rs1945787	0.89[EUR][1000 genomes]
rs2020351	0.86[EUR][1000 genomes]
rs2139089	0.89[EUR][1000 genomes]
rs2213108	0.91[EUR][1000 genomes]
rs2399750	0.89[EUR][1000 genomes]
rs2460049	0.89[EUR][1000 genomes]
rs2460050	0.89[EUR][1000 genomes]
rs2460052	0.85[EUR][1000 genomes]
rs2460058	0.81[EUR][1000 genomes]
rs2460064	0.91[EUR][1000 genomes]
rs2460069	0.89[EUR][1000 genomes]
rs2462743	0.84[EUR][1000 genomes]
rs2462757	0.86[EUR][1000 genomes]
rs2462759	0.89[EUR][1000 genomes]
rs2462763	0.89[EUR][1000 genomes]
rs2511380	0.89[EUR][1000 genomes]
rs2511381	0.81[EUR][1000 genomes]
rs2511390	0.82[EUR][1000 genomes]
rs2511403	0.90[EUR][1000 genomes]
rs72964621	0.83[EUR][1000 genomes]
rs72964623	0.83[EUR][1000 genomes]
rs72964624	0.83[EUR][1000 genomes]
rs72964625	0.82[EUR][1000 genomes]
rs72964634	0.81[EUR][1000 genomes]
rs925005	0.84[EUR][1000 genomes]
rs959342	0.89[EUR][1000 genomes]
rs959343	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	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
3	nsv442	chr11:93665117-93717973	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2757466	chr11:93676224-93714950	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759854	chr11:93676224-93714950	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2456556	HEPHL1	cis	Artery Tibial	GTEx
rs2456556	HEPHL1	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93707600-93707800	ZNF genes & repeats	K562	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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