Variant report

Variant	rs1517124
Chromosome Location	chr8:69305180-69305181
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10957432	0.80[ASN][1000 genomes]
rs13252745	0.96[ASN][1000 genomes]
rs13257807	0.99[ASN][1000 genomes]
rs13261104	0.94[ASN][1000 genomes]
rs13262740	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs13276394	0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]
rs13278793	0.83[ASN][1000 genomes]
rs1607144	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971404	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs1971527	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2138677	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs2176368	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2591011	0.96[ASN][1000 genomes]
rs2591012	0.96[ASN][1000 genomes]
rs2591015	0.94[ASN][1000 genomes]
rs2591016	0.96[ASN][1000 genomes]
rs4346979	0.96[ASN][1000 genomes]
rs6991818	0.90[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7000384	0.99[ASN][1000 genomes]
rs7001418	0.97[ASN][1000 genomes]
rs7013597	1.00[ASN][1000 genomes]
rs7015549	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs7017437	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7818147	0.91[ASN][1000 genomes]
rs7822588	0.91[ASN][1000 genomes]
rs7823116	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7823422	0.94[ASN][1000 genomes]
rs7838935	0.95[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs814441	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs814443	0.81[JPT][hapmap]
rs814444	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs814446	0.80[JPT][hapmap]
rs814463	0.99[ASN][1000 genomes]
rs868546	0.90[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9298133	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1031040	chr8:69265471-69315554	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv508512	chr8:69268794-69324532	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1517124	C8orf34	cis	Nerve Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69299400-69306800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:69303800-69305200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:69305000-69306000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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