Variant report

Variant	rs808283
Chromosome Location	chr10:116548999-116549000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10885610	0.92[ASN][1000 genomes]
rs11196917	0.92[ASN][1000 genomes]
rs12098336	0.82[ASN][1000 genomes]
rs1746028	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2420064	0.81[ASN][1000 genomes]
rs34253301	0.81[ASN][1000 genomes]
rs36007276	0.82[ASN][1000 genomes]
rs703349	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7089072	0.82[ASN][1000 genomes]
rs7098990	0.82[ASN][1000 genomes]
rs7899479	0.94[ASN][1000 genomes]
rs7907889	0.87[ASN][1000 genomes]
rs7908984	0.82[ASN][1000 genomes]
rs808279	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs808281	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs808282	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs808290	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs808291	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs808294	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs808295	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs808296	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs808298	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs808299	0.84[EUR][1000 genomes]
rs808344	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs808346	0.85[AMR][1000 genomes];0.92[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	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv1814163	chr10:116519705-116582581	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv516803	chr10:116528294-116556846	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116540600-116553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:116540800-116553200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:116548200-116549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:116548200-116549200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:116548400-116549000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:116548400-116549200	Enhancers	HSMM	muscle
7	chr10:116548600-116549400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:116548600-116549400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr10:116548600-116549400	Enhancers	Hela-S3	cervix
10	chr10:116548800-116549200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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