Variant report

Variant	rs11910489
Chromosome Location	chr21:18046904-18046905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11910443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910784	0.94[AFR][1000 genomes]
rs11911281	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998528	1.00[EUR][1000 genomes]
rs16998825	1.00[EUR][1000 genomes]
rs16999201	1.00[EUR][1000 genomes]
rs16999221	1.00[EUR][1000 genomes]
rs16999403	1.00[EUR][1000 genomes]
rs16999411	1.00[EUR][1000 genomes]
rs16999453	1.00[EUR][1000 genomes]
rs17000077	1.00[EUR][1000 genomes]
rs17000181	1.00[EUR][1000 genomes]
rs17000784	1.00[EUR][1000 genomes]
rs2243706	1.00[EUR][1000 genomes]
rs2823935	1.00[EUR][1000 genomes]
rs4380331	1.00[EUR][1000 genomes]
rs57784792	1.00[EUR][1000 genomes]
rs58347042	1.00[EUR][1000 genomes]
rs59937974	1.00[EUR][1000 genomes]
rs6517701	1.00[EUR][1000 genomes]
rs6517702	1.00[EUR][1000 genomes]
rs7275723	1.00[EUR][1000 genomes]
rs7277099	1.00[EUR][1000 genomes]
rs7277211	1.00[EUR][1000 genomes]
rs73367454	1.00[EUR][1000 genomes]
rs73367494	1.00[EUR][1000 genomes]
rs73369729	1.00[EUR][1000 genomes]
rs73893739	1.00[EUR][1000 genomes]
rs8127360	1.00[EUR][1000 genomes]
rs8128705	1.00[EUR][1000 genomes]
rs8128729	1.00[EUR][1000 genomes]
rs8129493	1.00[EUR][1000 genomes]
rs8129644	1.00[EUR][1000 genomes]
rs8130130	1.00[EUR][1000 genomes]
rs8131413	1.00[EUR][1000 genomes]
rs8131420	1.00[EUR][1000 genomes]
rs8132247	1.00[EUR][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	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv915742	chr21:18022813-18339999	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv913423	chr21:18023205-18057633	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	nsv913424	chr21:18026703-18057633	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv587079	chr21:18035045-18050542	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	nsv913425	chr21:18035045-18057633	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	nsv459102	chr21:18039145-18050542	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv587080	chr21:18039145-18050542	Enhancers Weak transcription	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	chr21:18046000-18049400	Enhancers	Fetal Intestine Small	intestine
2	chr21:18046600-18048000	Enhancers	Liver	Liver

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