Variant report

Variant	rs2597093
Chromosome Location	chr14:79886827-79886828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10144614	0.95[CEU][hapmap];0.82[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs10873321	0.91[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11159407	0.91[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs12437069	0.86[EUR][1000 genomes]
rs2167152	0.87[EUR][1000 genomes]
rs2196443	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2197989	0.95[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2197990	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2197992	0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2197993	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2218783	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2370975	0.87[EUR][1000 genomes]
rs2370980	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2574753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2597088	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2597090	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2887911	0.86[EUR][1000 genomes]
rs4243663	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4899740	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4899741	0.91[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4899744	0.95[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs4903847	0.91[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs4903848	0.91[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs4903854	0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4903855	0.90[EUR][1000 genomes]
rs8019980	0.84[EUR][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	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530072	chr14:79769657-79928269	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv902111	chr14:79807197-79890677	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79881200-79896000	Weak transcription	Aorta	Aorta
2	chr14:79884200-79901800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:79884400-79887000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:79885800-79887000	Enhancers	Liver	Liver
5	chr14:79885800-79888000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:79886000-79888000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:79886000-79889000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:79886200-79892000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:79886600-79887000	Enhancers	Fetal Intestine Large	intestine
10	chr14:79886800-79887000	Enhancers	Psoas Muscle	Psoas
11	chr14:79886800-79888000	Enhancers	Fetal Intestine Small	intestine

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