Variant report

Variant	rs6980547
Chromosome Location	chr8:52500904-52500905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs16916514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916575	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56698894	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56731862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56822696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56882302	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56885973	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56926711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57050108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57085864	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57096501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57144368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57257431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57775390	1.00[ASN][1000 genomes]
rs58224916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58522786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58565207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58708912	1.00[ASN][1000 genomes]
rs59075579	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59078405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59111940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59175915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59477212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59853746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60028043	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60077137	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60163329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60252507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60357838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60447705	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60556846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60774747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61113860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61283765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73572306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73572319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73586762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588715	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588718	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588727	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588743	1.00[ASN][1000 genomes]
rs73588745	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588746	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815071	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:4 , 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	chr8:52498800-52506200	Weak transcription	Left Ventricle	heart
3	chr8:52499200-52502400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:52500400-52501400	Enhancers	Brain Germinal Matrix	brain

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