Variant report

Variant	rs2197990
Chromosome Location	chr14:79872904-79872905
allele	C/T
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:28)

rs_ID	r²[population]
rs10144614	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10873321	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159407	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs12437069	0.92[EUR][1000 genomes]
rs12894761	0.83[EUR][1000 genomes]
rs2167152	0.92[EUR][1000 genomes]
rs2196443	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2197989	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2197992	0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2197993	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2218783	0.96[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2218784	0.83[EUR][1000 genomes]
rs2370975	0.89[EUR][1000 genomes]
rs2370980	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2574753	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2597088	0.92[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2597090	0.92[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2597093	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2887911	0.92[EUR][1000 genomes]
rs4243663	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899740	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4899741	0.96[CEU][hapmap];0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4899744	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4903847	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs4903848	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs4903854	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903855	0.89[EUR][1000 genomes]
rs8019980	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79856800-79873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:79861800-79874600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:79867800-79877600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:79871200-79873600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:79872000-79873200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:79872600-79873600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:79872600-79884800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:79872800-79873000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:79872800-79874400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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