Variant report

Variant	rs589757
Chromosome Location	chr5:41572722-41572723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11740571	1.00[ASN][1000 genomes]
rs11741653	1.00[ASN][1000 genomes]
rs1645010	1.00[ASN][1000 genomes]
rs16871562	1.00[ASN][1000 genomes]
rs2172925	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs586373	1.00[ASN][1000 genomes]
rs59502841	1.00[ASN][1000 genomes]
rs597921	0.83[ASN][1000 genomes]
rs598318	0.83[ASN][1000 genomes]
rs599176	1.00[ASN][1000 genomes]
rs600137	1.00[ASN][1000 genomes]
rs600464	1.00[ASN][1000 genomes]
rs602538	1.00[ASN][1000 genomes]
rs603979	1.00[ASN][1000 genomes]
rs610657	1.00[ASN][1000 genomes]
rs621609	1.00[ASN][1000 genomes]
rs629883	1.00[ASN][1000 genomes]
rs631626	1.00[ASN][1000 genomes]
rs633282	1.00[ASN][1000 genomes]
rs633361	1.00[ASN][1000 genomes]
rs634858	0.83[ASN][1000 genomes]
rs636459	1.00[ASN][1000 genomes]
rs637761	1.00[ASN][1000 genomes]
rs644461	1.00[ASN][1000 genomes]
rs645561	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs648014	1.00[ASN][1000 genomes]
rs650073	1.00[ASN][1000 genomes]
rs650160	1.00[ASN][1000 genomes]
rs651888	1.00[ASN][1000 genomes]
rs652237	1.00[ASN][1000 genomes]
rs659547	0.83[ASN][1000 genomes]
rs660333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs660833	1.00[ASN][1000 genomes]
rs661845	0.83[ASN][1000 genomes]
rs662204	1.00[ASN][1000 genomes]
rs664202	1.00[ASN][1000 genomes]
rs664228	0.83[ASN][1000 genomes]
rs664634	0.83[ASN][1000 genomes]
rs664680	0.83[ASN][1000 genomes]
rs665157	0.83[ASN][1000 genomes]
rs665999	1.00[ASN][1000 genomes]
rs669700	1.00[ASN][1000 genomes]
rs673538	1.00[ASN][1000 genomes]
rs674512	1.00[ASN][1000 genomes]
rs675146	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs675609	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs676512	1.00[CHD][hapmap]
rs676746	1.00[ASN][1000 genomes]
rs677170	1.00[ASN][1000 genomes]
rs677450	1.00[CHB][hapmap]
rs677610	0.83[ASN][1000 genomes]
rs677612	1.00[ASN][1000 genomes]
rs677997	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs678996	1.00[ASN][1000 genomes]
rs681880	1.00[ASN][1000 genomes]
rs682701	1.00[ASN][1000 genomes]
rs682711	1.00[ASN][1000 genomes]
rs684130	1.00[ASN][1000 genomes]
rs6869561	1.00[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881563	chr5:41560079-41616100	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv823058	chr5:41570936-41582473	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv514304	chr5:41571299-41581271	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1794449	chr5:41571309-41581513	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2754651	chr5:41571309-41581513	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2755206	chr5:41571309-41581513	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2421732	chr5:41571309-41583279	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2753438	chr5:41571309-41600812	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv441951	chr5:41571313-41581513	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv818348	chr5:41572722-41579718	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs589757	HCN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41572400-41572800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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