Variant report

Variant	rs8128973
Chromosome Location	chr21:17785631-17785632
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1074741	0.81[CHB][hapmap]
rs11088585	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs11911745	0.96[CEU][hapmap]
rs1349226	1.00[CEU][hapmap]
rs1375625	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1375626	0.96[CEU][hapmap]
rs1974157	0.82[EUR][1000 genomes]
rs1992970	0.81[CEU][hapmap]
rs2051270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs240455	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240459	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs240461	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs240492	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2823784	0.88[CEU][hapmap]
rs2823790	0.92[CEU][hapmap]
rs2823791	0.83[EUR][1000 genomes]
rs2823798	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2823799	0.96[CEU][hapmap];0.82[CHB][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs2823801	0.91[CEU][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs3928806	0.88[EUR][1000 genomes]
rs57190849	0.82[EUR][1000 genomes]
rs6517700	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs8126683	0.91[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs8126881	0.96[CEU][hapmap]
rs9305765	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs996175	0.81[EUR][1000 genomes]
rs9979472	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs9980917	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984548	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv913418	chr21:17767773-17786219	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv979496	chr21:17772425-17789214	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv913419	chr21:17775056-17826260	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv470880	chr21:17777827-17820111	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv459100	chr21:17777966-17826260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv587077	chr21:17777966-17826260	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv913420	chr21:17777966-17826260	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17771400-17791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:17775400-17786600	Weak transcription	Ovary	ovary
3	chr21:17775600-17786000	Weak transcription	Brain Anterior Caudate	brain
4	chr21:17781000-17789600	Weak transcription	Liver	Liver
5	chr21:17781200-17790400	Weak transcription	NH-A	brain

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