Variant report

Variant	rs4246109
Chromosome Location	chr8:89342288-89342289
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:89336276..89338217-chr8:89340889..89343054,2	K562	blood:
2	chr8:89341771..89343976-chr8:89349290..89351114,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10088444	0.81[AMR][1000 genomes]
rs10100170	0.89[EUR][1000 genomes]
rs1012116	0.84[EUR][1000 genomes]
rs10504845	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250349	0.85[AFR][1000 genomes]
rs13256784	0.83[EUR][1000 genomes]
rs13261175	0.89[EUR][1000 genomes]
rs13262875	0.90[EUR][1000 genomes]
rs1394511	0.88[EUR][1000 genomes]
rs1504801	0.90[EUR][1000 genomes]
rs16881203	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892543	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910730	0.90[EUR][1000 genomes]
rs28787399	0.95[EUR][1000 genomes]
rs34051963	0.90[EUR][1000 genomes]
rs35175011	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4246111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4369037	0.84[EUR][1000 genomes]
rs4395935	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4395936	0.80[ASN][1000 genomes]
rs4461943	0.83[AFR][1000 genomes]
rs4515601	0.80[ASN][1000 genomes]
rs4548227	0.80[ASN][1000 genomes]
rs4961086	0.80[ASN][1000 genomes]
rs4961087	0.80[ASN][1000 genomes]
rs4961090	0.80[ASN][1000 genomes]
rs56231945	0.90[EUR][1000 genomes]
rs58255283	0.90[EUR][1000 genomes]
rs58418586	0.90[EUR][1000 genomes]
rs58644813	0.89[EUR][1000 genomes]
rs6469364	0.87[EUR][1000 genomes]
rs67312178	0.90[EUR][1000 genomes]
rs6984041	0.90[EUR][1000 genomes]
rs6989402	0.90[EUR][1000 genomes]
rs6994283	0.90[EUR][1000 genomes]
rs7002751	0.90[EUR][1000 genomes]
rs7003388	0.90[EUR][1000 genomes]
rs7004601	0.83[AFR][1000 genomes]
rs7006944	0.87[AFR][1000 genomes]
rs7009149	0.80[ASN][1000 genomes]
rs7014590	0.81[AMR][1000 genomes]
rs7823223	0.89[EUR][1000 genomes]
rs7825672	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7828497	0.83[AMR][1000 genomes]
rs7835845	0.81[AMR][1000 genomes];0.80[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4246109	MMP16	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89341400-89345600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:89341600-89343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:89341600-89352200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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