Variant report

Variant	rs17794451
Chromosome Location	chr8:58019217-58019218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10504216	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11774585	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11774645	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11774697	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11775568	0.81[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs11777459	0.95[CEU][hapmap]
rs11781690	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11783963	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs11783965	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs11785258	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11785260	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11786043	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11786074	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11786328	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11786527	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11786843	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11787247	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs12216730	0.86[EUR][1000 genomes]
rs12375445	1.00[CEU][hapmap]
rs1596142	0.95[CEU][hapmap]
rs16921589	0.90[EUR][1000 genomes]
rs16921623	0.94[CEU][hapmap]
rs16921626	0.95[CEU][hapmap]
rs16921675	0.94[CEU][hapmap]
rs16921676	0.95[CEU][hapmap]
rs16921688	0.87[ASN][1000 genomes]
rs16921808	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs17192845	0.94[CEU][hapmap];0.84[CHB][hapmap]
rs17193048	0.83[ASN][1000 genomes]
rs17194487	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs17801003	0.89[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs17801390	0.87[ASN][1000 genomes]
rs17802082	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs17804335	0.81[CEU][hapmap];0.91[CHB][hapmap]
rs17804365	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs17805326	0.91[CHB][hapmap]
rs17805332	0.91[CHB][hapmap]
rs2014516	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs2218271	0.95[CEU][hapmap]
rs2317990	0.90[EUR][1000 genomes]
rs4738567	0.86[EUR][1000 genomes]
rs58647001	0.90[EUR][1000 genomes]
rs6985942	0.91[CHB][hapmap]
rs6996550	1.00[CHB][hapmap]
rs6998040	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7000752	0.86[EUR][1000 genomes]
rs7013554	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs72649115	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72649132	0.87[ASN][1000 genomes]
rs72649133	0.87[ASN][1000 genomes]
rs7460059	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7463453	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7813252	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7816733	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs7817188	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs7822631	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7839948	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs882429	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs903702	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs903705	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs903706	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs949848	0.91[CHB][hapmap]

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	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv890933	chr8:58005923-58084006	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58017400-58021000	Weak transcription	HepG2	liver
2	chr8:58017800-58020800	Weak transcription	Liver	Liver
3	chr8:58018800-58020000	Enhancers	Fetal Kidney	kidney
4	chr8:58019200-58020400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:58019200-58020400	Enhancers	Fetal Lung	lung

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