Variant report

Variant	rs479453
Chromosome Location	chr11:104763967-104763968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1820471	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1820472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2845691	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4237613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489229	0.83[AMR][1000 genomes]
rs492215	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs493240	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs493975	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs497116	0.83[AMR][1000 genomes]
rs507894	0.83[AMR][1000 genomes]
rs536992	0.83[AMR][1000 genomes]
rs557973	0.83[AMR][1000 genomes]
rs560339	0.83[AMR][1000 genomes]
rs562183	0.83[AMR][1000 genomes]
rs56670368	0.83[AMR][1000 genomes]
rs571553	0.83[AMR][1000 genomes]
rs601053	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs602369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs604583	0.83[AMR][1000 genomes]
rs619368	0.83[AMR][1000 genomes]
rs635846	0.83[AMR][1000 genomes]
rs648264	0.83[AMR][1000 genomes]
rs679676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929558	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv2757474	chr11:104719593-104798545	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759862	chr11:104719593-104798545	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv1040536	chr11:104757419-104781022	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	esv20820	chr11:104757749-104781659	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv556217	chr11:104758035-104781313	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104745600-104768600	Weak transcription	Left Ventricle	heart
2	chr11:104752800-104766200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:104754400-104768600	Weak transcription	Pancreas	Pancrea
4	chr11:104757400-104765000	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:104759800-104768600	Weak transcription	Lung	lung
6	chr11:104760200-104765000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:104760800-104765200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:104760800-104765200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:104761400-104764400	Enhancers	NHDF-Ad	bronchial
10	chr11:104761400-104765800	Enhancers	HUVEC	blood vessel
11	chr11:104762200-104768600	Weak transcription	Psoas Muscle	Psoas
12	chr11:104762600-104764200	Enhancers	NHLF	lung
13	chr11:104762800-104764000	Enhancers	Ovary	ovary
14	chr11:104762800-104764000	Enhancers	NH-A	brain
15	chr11:104762800-104764400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:104763000-104764400	Enhancers	Osteobl	bone
17	chr11:104763200-104764000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:104763200-104764000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:104763200-104764200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:104763200-104764400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:104763400-104764000	Enhancers	Adipose Nuclei	Adipose
22	chr11:104763400-104764200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:104763400-104764200	Enhancers	Fetal Lung	lung
24	chr11:104763600-104764200	Active TSS	Aorta	Aorta
25	chr11:104763600-104764400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:104763600-104764400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:104763600-104764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:104763800-104769000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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