Variant report

Variant	rs3110289
Chromosome Location	chr8:65346936-65346937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1376773	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16931253	0.85[ASN][1000 genomes]
rs1823667	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs192721	0.88[CEU][hapmap];0.92[CHB][hapmap];0.87[ASN][1000 genomes]
rs2218045	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2246411	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2577894	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2577897	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2600466	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2600467	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2600470	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2600471	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2600472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2612589	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2612590	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2612600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2612603	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298176	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs298177	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs298179	0.89[ASN][1000 genomes]
rs298182	0.89[ASN][1000 genomes]
rs298183	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs298184	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs298185	0.89[ASN][1000 genomes]
rs298186	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs298196	0.87[ASN][1000 genomes]
rs298197	0.87[ASN][1000 genomes]
rs298198	0.87[ASN][1000 genomes]
rs298199	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs298200	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs298210	0.92[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs298213	0.88[CEU][hapmap];0.92[CHB][hapmap];0.87[ASN][1000 genomes]
rs298214	0.87[ASN][1000 genomes]
rs298215	0.85[ASN][1000 genomes]
rs298216	0.85[ASN][1000 genomes]
rs298218	0.87[ASN][1000 genomes]
rs3110288	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59712423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72656409	0.85[ASN][1000 genomes]
rs72656411	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3110289	COL9A3	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65346800-65347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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