Variant report

Variant	rs7834603
Chromosome Location	chr8:89534091-89534092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10504845	0.82[JPT][hapmap]
rs10504860	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs1094206	0.80[EUR][1000 genomes]
rs11988322	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11998171	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12681181	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13251103	0.81[EUR][1000 genomes]
rs13274015	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1386767	0.90[EUR][1000 genomes]
rs1394514	0.91[CEU][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1504804	0.91[CEU][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap]
rs1601818	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1601819	0.90[EUR][1000 genomes]
rs1601820	0.90[EUR][1000 genomes]
rs1601821	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1617649	0.89[EUR][1000 genomes]
rs1685541	0.90[EUR][1000 genomes]
rs1685549	0.90[EUR][1000 genomes]
rs1685551	0.90[EUR][1000 genomes]
rs1685553	0.89[EUR][1000 genomes]
rs1685554	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1685559	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16882450	0.80[EUR][1000 genomes]
rs16884419	0.94[ASN][1000 genomes]
rs1700150	0.90[EUR][1000 genomes]
rs1700154	0.82[EUR][1000 genomes]
rs1700155	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2134962	0.80[EUR][1000 genomes]
rs2656311	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2656312	0.90[EUR][1000 genomes]
rs3105405	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3105407	0.88[EUR][1000 genomes]
rs3105409	0.80[EUR][1000 genomes]
rs3110414	0.87[EUR][1000 genomes]
rs3110415	0.88[EUR][1000 genomes]
rs3110416	0.88[EUR][1000 genomes]
rs4246111	0.82[JPT][hapmap]
rs4246112	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs4246113	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs4305946	0.80[EUR][1000 genomes]
rs4515601	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs4625076	0.90[CEU][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs4961087	0.91[CEU][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap]
rs6994311	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7012882	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7828497	0.91[JPT][hapmap]
rs7835845	0.91[JPT][hapmap]
rs7838159	0.81[EUR][1000 genomes]
rs821111	0.80[EUR][1000 genomes]
rs821114	0.80[EUR][1000 genomes]
rs821117	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs821118	0.89[EUR][1000 genomes]
rs821119	0.90[EUR][1000 genomes]
rs821120	0.90[EUR][1000 genomes]
rs821121	0.90[EUR][1000 genomes]
rs866592	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv891172	chr8:89439469-89640705	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv891173	chr8:89509223-89996790	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1024633	chr8:89517079-89959574	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539666	chr8:89517079-89959574	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1027744	chr8:89526571-89609651	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv429927	chr8:89529845-89609684	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv520279	chr8:89534091-89607437	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7834603	MMP16	cis	Thyroid	GTEx
rs7834603	NBN	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89534000-89535200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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