Variant report

Variant	rs8012417
Chromosome Location	chr14:70690630-70690631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34937979	1.00[AMR][1000 genomes]
rs57195006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57233679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57642196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60038023	1.00[AFR][1000 genomes]
rs60130870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733810	1.00[AMR][1000 genomes]
rs73278853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278891	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280764	1.00[AMR][1000 genomes]
rs73280774	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh 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	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv565021	chr14:70688130-70690877	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv565030	chr14:70688352-70690877	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	esv3345682	chr14:70689349-70691247	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70689600-70690800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:70689600-70690800	Active TSS	K562	blood
3	chr14:70689600-70691000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:70689800-70690800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:70689800-70690800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:70690000-70690800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:70690000-70691000	Active TSS	HSMMtube	muscle
8	chr14:70690200-70690800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr14:70690200-70690800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:70690200-70690800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:70690200-70690800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:70690200-70690800	Active TSS	Adipose Nuclei	Adipose
13	chr14:70690200-70690800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:70690200-70690800	Active TSS	Fetal Stomach	stomach
15	chr14:70690200-70690800	Active TSS	Psoas Muscle	Psoas
16	chr14:70690200-70690800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
17	chr14:70690600-70690800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr14:70690600-70690800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr14:70690600-70690800	Flanking Active TSS	Pancreas	Pancrea
20	chr14:70690600-70690800	Flanking Active TSS	HSMM	muscle
21	chr14:70690600-70690800	Flanking Active TSS	NH-A	brain

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