Variant report

Variant	rs16916540
Chromosome Location	chr8:52498113-52498114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10113538	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10464942	0.81[EUR][1000 genomes]
rs16916180	1.00[MEX][hapmap]
rs16916554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916572	0.95[ASN][1000 genomes]
rs16916577	0.95[ASN][1000 genomes]
rs28435347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6994583	0.84[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs7003517	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs7012794	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs7016355	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs7017007	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs73586769	0.81[EUR][1000 genomes]
rs7816231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1031452	chr8:52483852-52516605	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv1024196	chr8:52484616-52516605	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv1026710	chr8:52488839-52508868	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	nsv1025973	chr8:52488839-52516605	Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv1021919	chr8:52488839-52518723	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv516548	chr8:52493581-52516170	Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv890897	chr8:52497178-52525554	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52496800-52502800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:52498000-52498600	Enhancers	Esophagus	oesophagus

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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