Variant report

Variant	rs1463923
Chromosome Location	chr8:89391848-89391849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:89374551..89376756-chr8:89391523..89393608,2	MCF-7	breast:
2	chr8:89389126..89391030-chr8:89391049..89394104,3	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10088444	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10283316	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481112	0.97[ASN][1000 genomes]
rs10504845	0.90[JPT][hapmap]
rs10504860	0.91[JPT][hapmap]
rs1094206	0.87[ASN][1000 genomes]
rs10955586	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155798	0.84[ASN][1000 genomes]
rs12156301	0.90[ASN][1000 genomes]
rs12548636	0.93[ASN][1000 genomes]
rs12682164	0.95[ASN][1000 genomes]
rs13251103	0.88[ASN][1000 genomes]
rs1386767	0.85[ASN][1000 genomes]
rs1394514	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1394517	0.93[ASN][1000 genomes]
rs1394518	0.95[ASN][1000 genomes]
rs1394519	0.95[ASN][1000 genomes]
rs1504804	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1601818	0.83[ASN][1000 genomes]
rs1601819	0.85[ASN][1000 genomes]
rs1601820	0.85[ASN][1000 genomes]
rs1601821	0.85[ASN][1000 genomes]
rs1617649	0.85[ASN][1000 genomes]
rs1685541	0.87[ASN][1000 genomes]
rs1685549	0.85[ASN][1000 genomes]
rs1685551	0.85[ASN][1000 genomes]
rs1685553	0.85[ASN][1000 genomes]
rs1685554	0.85[ASN][1000 genomes]
rs1685559	0.85[ASN][1000 genomes]
rs16881203	0.86[JPT][hapmap]
rs16882450	0.87[ASN][1000 genomes]
rs1700150	0.85[ASN][1000 genomes]
rs1700154	0.83[ASN][1000 genomes]
rs1700155	0.85[ASN][1000 genomes]
rs1857753	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857754	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857755	0.97[ASN][1000 genomes]
rs1875904	0.95[ASN][1000 genomes]
rs2134962	0.87[ASN][1000 genomes]
rs2134964	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2656311	0.87[ASN][1000 genomes]
rs2656312	0.85[ASN][1000 genomes]
rs28417952	0.95[ASN][1000 genomes]
rs3105405	0.87[ASN][1000 genomes]
rs3105406	0.87[ASN][1000 genomes]
rs3105407	0.87[ASN][1000 genomes]
rs3105409	0.87[ASN][1000 genomes]
rs3110414	0.87[ASN][1000 genomes]
rs3110415	0.87[ASN][1000 genomes]
rs3110416	0.87[ASN][1000 genomes]
rs3110417	0.86[ASN][1000 genomes]
rs4246111	0.91[JPT][hapmap]
rs4246112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4246113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4246115	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275260	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305946	0.88[ASN][1000 genomes]
rs4320597	1.00[ASN][1000 genomes]
rs4395936	0.97[ASN][1000 genomes]
rs4434662	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4483202	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4515601	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4548227	0.97[ASN][1000 genomes]
rs4625076	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4961086	0.97[ASN][1000 genomes]
rs4961087	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4961089	0.90[ASN][1000 genomes]
rs4961090	0.97[ASN][1000 genomes]
rs4961093	1.00[ASN][1000 genomes]
rs4961094	0.95[ASN][1000 genomes]
rs4961096	0.95[ASN][1000 genomes]
rs56084092	0.87[ASN][1000 genomes]
rs56187488	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989866	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009149	0.97[ASN][1000 genomes]
rs7014590	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828497	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7835845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7838159	0.88[ASN][1000 genomes]
rs821100	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs821111	0.87[ASN][1000 genomes]
rs821114	0.87[ASN][1000 genomes]
rs821117	0.85[ASN][1000 genomes]
rs821118	0.83[ASN][1000 genomes]
rs821119	0.85[ASN][1000 genomes]
rs821120	0.87[ASN][1000 genomes]
rs821121	0.87[ASN][1000 genomes]
rs866592	0.85[ASN][1000 genomes]
rs9656892	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	esv2610995	chr8:89391109-89392856	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3374546	chr8:89391261-89393809	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3356384	chr8:89391486-89393559	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1463923	MMP16	cis	Thyroid	GTEx
rs1463923	MMP16	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89380600-89394800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:89389400-89392800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:89391200-89393000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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