Variant report

Variant	rs17748839
Chromosome Location	chr8:119315371-119315372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10102091	0.85[EUR][1000 genomes]
rs10102185	0.86[EUR][1000 genomes]
rs10102483	0.86[EUR][1000 genomes]
rs10808497	0.84[EUR][1000 genomes]
rs11997306	0.91[ASN][1000 genomes]
rs12156385	0.87[EUR][1000 genomes]
rs13275560	0.86[ASN][1000 genomes]
rs1385806	0.86[EUR][1000 genomes]
rs1385807	0.85[EUR][1000 genomes]
rs1485895	0.87[ASN][1000 genomes]
rs1843535	0.88[EUR][1000 genomes]
rs1905938	0.82[EUR][1000 genomes]
rs2062425	0.80[EUR][1000 genomes]
rs2062426	0.80[EUR][1000 genomes]
rs28508414	0.86[EUR][1000 genomes]
rs28558308	0.88[EUR][1000 genomes]
rs34008405	0.92[EUR][1000 genomes]
rs34997644	0.99[ASN][1000 genomes]
rs3802185	0.88[EUR][1000 genomes]
rs4579562	0.80[ASN][1000 genomes]
rs4592080	0.84[EUR][1000 genomes]
rs4593580	0.88[EUR][1000 genomes]
rs6469731	0.86[EUR][1000 genomes]
rs6469732	0.86[EUR][1000 genomes]
rs6983634	0.93[EUR][1000 genomes]
rs6991597	0.86[EUR][1000 genomes]
rs7009206	0.86[EUR][1000 genomes]
rs7010323	0.93[EUR][1000 genomes]
rs71515964	0.86[EUR][1000 genomes]
rs7813475	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817627	0.86[EUR][1000 genomes]
rs7818835	0.92[EUR][1000 genomes]
rs7819713	0.91[EUR][1000 genomes]
rs7820290	0.91[EUR][1000 genomes]
rs7820498	0.92[EUR][1000 genomes]
rs7823536	0.88[EUR][1000 genomes]
rs7823689	0.88[EUR][1000 genomes]
rs7825192	0.81[ASN][1000 genomes]
rs7827787	0.87[ASN][1000 genomes]
rs7828165	0.89[EUR][1000 genomes]
rs7829943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs7837752	0.93[EUR][1000 genomes]
rs7838723	0.92[EUR][1000 genomes]
rs7841856	0.88[EUR][1000 genomes]
rs9297582	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9642839	0.85[EUR][1000 genomes]
rs9694445	0.92[EUR][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	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr8:119304200-119322200	Weak transcription	GM12878-XiMat	blood
2	chr8:119306800-119315400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:119314800-119315400	Enhancers	Fetal Lung	lung
4	chr8:119315200-119315400	Enhancers	Brain Substantia Nigra	brain
5	chr8:119315200-119315600	Enhancers	Brain Hippocampus Middle	brain

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