Variant report

Variant	rs1200639
Chromosome Location	chr11:104662896-104662897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10128735	0.80[ASN][1000 genomes]
rs1147035	0.82[ASN][1000 genomes]
rs1147036	0.88[ASN][1000 genomes]
rs1147037	0.88[ASN][1000 genomes]
rs1147040	0.88[ASN][1000 genomes]
rs1147042	0.89[ASN][1000 genomes]
rs1147046	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1147047	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1147051	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1200640	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200641	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200644	0.88[ASN][1000 genomes]
rs1200648	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1200649	0.88[ASN][1000 genomes]
rs1200656	0.88[ASN][1000 genomes]
rs1201819	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12272453	0.80[ASN][1000 genomes]
rs12280706	0.80[ASN][1000 genomes]
rs12788324	0.80[ASN][1000 genomes]
rs1426550	0.80[ASN][1000 genomes]
rs1426552	0.80[ASN][1000 genomes]
rs1426553	0.80[ASN][1000 genomes]
rs1834631	0.80[ASN][1000 genomes]
rs1892927	0.80[ASN][1000 genomes]
rs2052752	0.80[ASN][1000 genomes]
rs2845897	0.88[ASN][1000 genomes]
rs34185315	0.80[ASN][1000 genomes]
rs34462521	0.80[ASN][1000 genomes]
rs35835077	0.80[ASN][1000 genomes]
rs4494280	0.80[ASN][1000 genomes]
rs4619123	0.80[ASN][1000 genomes]
rs60489722	0.80[ASN][1000 genomes]
rs7130311	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7925694	0.80[ASN][1000 genomes]
rs7926917	0.82[ASN][1000 genomes]
rs985406	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1050346	chr11:104548749-104664665	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3322157	chr11:104661042-104663390	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3419982	chr11:104661692-104662990	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	nsv826072	chr11:104662708-104768357	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr11:104655800-104668600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:104662600-104663200	Enhancers	Fetal Intestine Small	intestine
3	chr11:104662600-104664400	Enhancers	Fetal Heart	heart
4	chr11:104662800-104663600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:104662800-104663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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