Variant report

Variant	rs7299727
Chromosome Location	chr12:86127322-86127323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10779199	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863053	0.92[EUR][1000 genomes]
rs10863064	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11116995	0.97[EUR][1000 genomes]
rs11117012	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1118818	0.87[AFR][1000 genomes]
rs17322447	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1993808	0.89[AFR][1000 genomes]
rs1993809	0.89[AFR][1000 genomes]
rs2199524	0.89[AFR][1000 genomes]
rs2405264	0.87[AFR][1000 genomes]
rs3041468	0.92[EUR][1000 genomes]
rs4897820	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4897833	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4897835	0.87[AFR][1000 genomes]
rs56092643	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61928654	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928655	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928658	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61928659	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61928922	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61928923	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61928924	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61928925	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61928926	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61928927	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61928930	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61928931	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61928936	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61928938	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61928939	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61929961	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61930083	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930090	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930091	0.97[EUR][1000 genomes]
rs7132191	0.97[EUR][1000 genomes]
rs7296027	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298784	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7969224	0.92[EUR][1000 genomes]
rs958414	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9971710	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9971811	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	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
7	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
8	nsv455680	chr12:86120810-86160277	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv559666	chr12:86120810-86160277	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86126200-86128000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:86126600-86128200	Enhancers	Fetal Intestine Small	intestine
3	chr12:86126800-86127400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:86126800-86128200	Enhancers	Fetal Lung	lung
5	chr12:86127000-86127600	Enhancers	HUVEC	blood vessel
6	chr12:86127200-86127600	Weak transcription	Fetal Intestine Large	intestine
7	chr12:86127200-86128200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:86127200-86128200	Enhancers	NH-A	brain
9	chr12:86127200-86128200	Enhancers	NHDF-Ad	bronchial
10	chr12:86127200-86128400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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