Variant report

Variant	rs1517129
Chromosome Location	chr8:69300394-69300395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12541312	1.00[JPT][hapmap]
rs12545937	1.00[ASN][1000 genomes]
rs1517130	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16919092	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16934487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16934503	0.87[ASN][1000 genomes]
rs16934507	0.87[ASN][1000 genomes]
rs16934510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17467559	1.00[CEU][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs1867633	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1980177	1.00[JPT][hapmap]
rs2243700	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2243702	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2246592	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2255882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591010	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2591014	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2591019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591021	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2591024	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2676632	0.93[EUR][1000 genomes]
rs2676633	1.00[JPT][hapmap]
rs2676648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2676649	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2676650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2676651	0.98[EUR][1000 genomes]
rs2676652	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2676653	0.98[EUR][1000 genomes]
rs2676654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2676655	0.96[EUR][1000 genomes]
rs2676656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2944715	1.00[JPT][hapmap]
rs3812450	1.00[JPT][hapmap]
rs58125593	0.88[ASN][1000 genomes]
rs59003086	0.87[ASN][1000 genomes]
rs59098392	0.90[ASN][1000 genomes]
rs59134336	0.90[ASN][1000 genomes]
rs59670612	0.87[ASN][1000 genomes]
rs61152394	0.86[ASN][1000 genomes]
rs6999119	1.00[JPT][hapmap]
rs7000104	1.00[JPT][hapmap]
rs814440	0.86[CEU][hapmap]
rs814442	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs814455	0.94[EUR][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
rs1517129	C8orf34	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69296800-69303800	Weak transcription	Adipose Nuclei	Adipose
2	chr8:69298200-69301800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:69299400-69305000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:69299400-69306800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:69299600-69302200	Weak transcription	Aorta	Aorta

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