Variant report

Variant	rs11116998
Chromosome Location	chr12:86106942-86106943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11116979	1.00[AMR][1000 genomes]
rs11116997	1.00[AMR][1000 genomes]
rs11116999	1.00[AMR][1000 genomes]
rs11117002	1.00[AMR][1000 genomes]
rs11117008	1.00[AMR][1000 genomes]
rs11117009	1.00[AMR][1000 genomes]
rs12299851	1.00[AMR][1000 genomes]
rs12301100	1.00[AMR][1000 genomes]
rs12301766	1.00[AMR][1000 genomes]
rs12303494	1.00[AMR][1000 genomes]
rs12304340	1.00[AMR][1000 genomes]
rs12304459	1.00[AMR][1000 genomes]
rs12304781	1.00[AMR][1000 genomes]
rs12305171	1.00[AMR][1000 genomes]
rs12307752	1.00[AMR][1000 genomes]
rs12311207	1.00[AMR][1000 genomes]
rs12311993	1.00[AMR][1000 genomes]
rs12313240	1.00[AMR][1000 genomes]
rs12316331	1.00[AMR][1000 genomes]
rs12320575	1.00[AMR][1000 genomes]
rs13377854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60244554	1.00[AMR][1000 genomes]
rs7301687	1.00[AMR][1000 genomes]
rs747405	1.00[AMR][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	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1043253	chr12:85888151-86125364	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1054475	chr12:85985510-86175711	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv541561	chr12:85985510-86175711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86105400-86108200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:86105600-86107400	Enhancers	Adipose Nuclei	Adipose
3	chr12:86105800-86107200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:86105800-86107200	Enhancers	Fetal Lung	lung
5	chr12:86106400-86107000	Enhancers	Colon Smooth Muscle	Colon
6	chr12:86106400-86107200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:86106600-86107600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:86106800-86107200	Enhancers	Aorta	Aorta

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