Variant report

Variant	rs259811
Chromosome Location	chr2:180787801-180787802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12465592	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12468986	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12693214	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12693215	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16867131	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1904850	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2367990	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs259810	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678936	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3843323	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3845701	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3856415	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56401468	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6433816	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6433818	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433820	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433821	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6722147	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6727890	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6733426	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6744281	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6759271	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72958863	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72960660	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72960664	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72960701	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72962517	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72962575	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs818661	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9288045	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180782800-180789600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:180783800-180811800	Weak transcription	Left Ventricle	heart

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