Variant report

Variant	rs17749504
Chromosome Location	chr8:119418276-119418277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10086502	1.00[ASN][1000 genomes]
rs10086524	1.00[ASN][1000 genomes]
rs10093508	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111538	1.00[ASN][1000 genomes]
rs10216338	1.00[ASN][1000 genomes]
rs10282806	1.00[ASN][1000 genomes]
rs10283109	1.00[ASN][1000 genomes]
rs11784853	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984748	1.00[ASN][1000 genomes]
rs11985716	1.00[ASN][1000 genomes]
rs11990062	0.94[CEU][hapmap];1.00[ASN][1000 genomes]
rs11993432	1.00[ASN][1000 genomes]
rs12171673	0.94[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs16890858	1.00[ASN][1000 genomes]
rs16890873	1.00[ASN][1000 genomes]
rs17682182	1.00[ASN][1000 genomes]
rs28437493	1.00[ASN][1000 genomes]
rs28708682	1.00[ASN][1000 genomes]
rs3912488	1.00[ASN][1000 genomes]
rs3912489	1.00[ASN][1000 genomes]
rs4388478	1.00[ASN][1000 genomes]
rs4534153	1.00[ASN][1000 genomes]
rs4637873	1.00[ASN][1000 genomes]
rs4639556	1.00[ASN][1000 genomes]
rs4876823	1.00[ASN][1000 genomes]
rs4876824	1.00[ASN][1000 genomes]
rs4876825	1.00[ASN][1000 genomes]
rs4876826	1.00[ASN][1000 genomes]
rs4876827	1.00[ASN][1000 genomes]
rs59286592	1.00[ASN][1000 genomes]
rs6469744	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs6983446	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs6984129	1.00[ASN][1000 genomes]
rs6985984	1.00[ASN][1000 genomes]
rs6992607	1.00[ASN][1000 genomes]
rs7000354	1.00[ASN][1000 genomes]
rs7000586	1.00[ASN][1000 genomes]
rs7004302	1.00[ASN][1000 genomes]
rs7004323	1.00[ASN][1000 genomes]
rs7004575	1.00[ASN][1000 genomes]
rs7814050	1.00[ASN][1000 genomes]
rs7817780	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822426	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822773	1.00[ASN][1000 genomes]
rs7826317	1.00[CHD][hapmap]
rs7828603	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828844	0.94[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838410	1.00[CHD][hapmap]
rs7839234	1.00[ASN][1000 genomes]
rs9297584	1.00[GIH][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17749504	HAS2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119398800-119422000	Weak transcription	GM12878-XiMat	blood
2	chr8:119413600-119431400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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