Variant report

Variant	rs2846712
Chromosome Location	chr11:102517987-102517988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1276253	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1276255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1276256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1276267	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1276270	0.86[CEU][hapmap]
rs1276271	0.93[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1276276	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1276277	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1291325	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1291326	0.89[AFR][1000 genomes]
rs1320632	0.85[MEX][hapmap];1.00[YRI][hapmap]
rs1940463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1940472	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1940481	1.00[YRI][hapmap]
rs2155052	1.00[YRI][hapmap]
rs2464361	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2509009	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2509010	1.00[ASW][hapmap];0.90[LWK][hapmap];0.82[YRI][hapmap]
rs2509026	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2509238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509239	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2701988	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs2701994	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs2846341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2846343	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2846363	1.00[YRI][hapmap]
rs2846364	0.90[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap]
rs2846368	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2846702	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs2846703	1.00[LWK][hapmap]
rs2846707	1.00[YRI][hapmap]
rs2846708	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2846709	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2846710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2846713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121624	1.00[YRI][hapmap]
rs948217	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832252	chr11:102445479-102627879	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1037454	chr11:102487521-102601233	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541156	chr11:102487521-102601233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2846712	MMP7	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102517200-102518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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