Variant report

Variant	rs4961089
Chromosome Location	chr8:89348016-89348017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10088444	0.91[ASN][1000 genomes]
rs10283316	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10481112	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10955586	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12156301	0.83[ASN][1000 genomes]
rs12548636	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12682164	0.85[ASN][1000 genomes]
rs1394514	0.81[ASN][1000 genomes]
rs1394517	0.84[ASN][1000 genomes]
rs1394518	0.85[ASN][1000 genomes]
rs1394519	0.85[ASN][1000 genomes]
rs1463923	0.90[ASN][1000 genomes]
rs1857753	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1857754	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1857755	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1875904	0.85[ASN][1000 genomes]
rs2134964	0.85[ASN][1000 genomes]
rs28417952	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4246112	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4246113	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4246115	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4275260	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4320597	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4395936	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4434662	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4483202	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4515601	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4548227	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961086	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961087	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961090	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961093	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4961094	0.85[ASN][1000 genomes]
rs4961096	0.85[ASN][1000 genomes]
rs56187488	0.90[ASN][1000 genomes]
rs6989866	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7009149	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7014590	0.88[ASN][1000 genomes]
rs7828497	0.90[ASN][1000 genomes]
rs7835845	0.92[ASN][1000 genomes]
rs9656892	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891171	chr8:89342944-89439469	Enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4961089	MMP16	cis	Adipose Subcutaneous	GTEx
rs4961089	MMP16	cis	Thyroid	GTEx
rs4961089	MMP16	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89341600-89352200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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