Variant report

Variant	rs12113217
Chromosome Location	chr7:79862278-79862279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10237103	1.00[EUR][1000 genomes]
rs10244782	1.00[EUR][1000 genomes]
rs10252170	1.00[EUR][1000 genomes]
rs10259591	1.00[EUR][1000 genomes]
rs10265195	1.00[EUR][1000 genomes]
rs10265331	1.00[EUR][1000 genomes]
rs10279516	1.00[EUR][1000 genomes]
rs10429156	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11981471	1.00[EUR][1000 genomes]
rs12113915	1.00[EUR][1000 genomes]
rs12721454	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17153557	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17153567	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17153826	1.00[EUR][1000 genomes]
rs17153919	1.00[EUR][1000 genomes]
rs1850284	1.00[AMR][1000 genomes]
rs304786	1.00[EUR][1000 genomes]
rs3914182	1.00[AMR][1000 genomes]
rs56213139	1.00[EUR][1000 genomes]
rs56266009	1.00[EUR][1000 genomes]
rs58015101	1.00[EUR][1000 genomes]
rs58702842	1.00[EUR][1000 genomes]
rs59148543	1.00[EUR][1000 genomes]
rs59441107	1.00[AMR][1000 genomes]
rs6949382	1.00[EUR][1000 genomes]
rs6956322	1.00[EUR][1000 genomes]
rs6966043	1.00[EUR][1000 genomes]
rs6971822	1.00[AMR][1000 genomes]
rs73374551	1.00[EUR][1000 genomes]
rs73374586	1.00[EUR][1000 genomes]
rs73374587	1.00[EUR][1000 genomes]
rs73376504	1.00[EUR][1000 genomes]
rs73376514	1.00[EUR][1000 genomes]
rs73376517	1.00[EUR][1000 genomes]
rs73376520	1.00[EUR][1000 genomes]
rs73376532	1.00[EUR][1000 genomes]
rs73376537	1.00[EUR][1000 genomes]
rs73376566	1.00[EUR][1000 genomes]
rs73378618	1.00[EUR][1000 genomes]
rs73382632	1.00[AMR][1000 genomes]
rs73382633	1.00[AMR][1000 genomes]
rs73382635	1.00[AMR][1000 genomes]
rs73708332	1.00[EUR][1000 genomes]
rs7776592	1.00[EUR][1000 genomes]
rs7779762	1.00[AMR][1000 genomes]
rs7783639	1.00[EUR][1000 genomes]
rs7785624	1.00[AMR][1000 genomes]
rs7792549	1.00[EUR][1000 genomes]
rs7793962	1.00[EUR][1000 genomes]
rs7793978	1.00[AMR][1000 genomes]
rs7794116	1.00[AMR][1000 genomes]
rs7797068	1.00[AMR][1000 genomes]
rs7797671	1.00[EUR][1000 genomes]
rs7798923	1.00[EUR][1000 genomes]
rs7801052	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79843000-79862800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:79850400-79866200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:79859200-79862400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:79859200-79863200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:79859600-79862600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:79859600-79863200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:79860000-79866200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:79860600-79863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:79860600-79863400	Enhancers	HMEC	breast
10	chr7:79860600-79863600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:79861000-79863200	Enhancers	HepG2	liver
12	chr7:79861400-79873800	Weak transcription	Osteobl	bone
13	chr7:79861600-79869800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:79862200-79862400	Flanking Active TSS	NHEK	skin
15	chr7:79862200-79862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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