Variant report

Variant	rs7014727
Chromosome Location	chr8:90532927-90532928
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90531780..90534462-chr8:90543332..90544920,2	MCF-7	breast:
2	chr8:90531640..90533471-chr8:90537181..90540329,3	MCF-7	breast:
3	chr8:90515684..90517302-chr8:90531815..90534034,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10481149	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956112	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1155862	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990212	0.89[AMR][1000 genomes]
rs12543174	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12548463	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679659	0.89[AMR][1000 genomes]
rs13254409	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13259817	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13262692	0.82[EUR][1000 genomes]
rs13269159	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13269643	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13272964	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13276435	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13281110	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16897522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879911	0.89[AMR][1000 genomes]
rs2222430	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs311643	0.86[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes]
rs311646	0.89[AMR][1000 genomes]
rs311649	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35301753	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35522295	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57057954	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6982117	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71528709	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71528721	0.86[EUR][1000 genomes]
rs71528722	0.89[AMR][1000 genomes]
rs71528723	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7459744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830141	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7830706	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9642869	0.89[AMR][1000 genomes]
rs9643178	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9643185	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9643186	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv2761173	chr8:90404592-90592009	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1027327	chr8:90426338-90585108	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1028969	chr8:90475194-90650295	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv528988	chr8:90475375-90608246	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv611720	chr8:90476925-90608246	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv427825	chr8:90495139-90653696	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv525380	chr8:90532927-90546979	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv527244	chr8:90532927-90589630	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7014727	MMP16	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90532800-90533000	Enhancers	HSMMtube	muscle

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