Variant report

Variant	rs4899744
Chromosome Location	chr14:79875300-79875301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10144614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873321	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs11159407	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12437069	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12894761	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2167152	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2196443	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197989	1.00[CEU][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs2197990	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2197992	0.93[EUR][1000 genomes]
rs2197993	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs2218783	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2218784	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2370975	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2370980	0.93[EUR][1000 genomes]
rs2574753	0.92[EUR][1000 genomes]
rs2597088	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs2597090	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs2597093	0.95[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2887911	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4243663	0.96[CEU][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs4899740	0.88[EUR][1000 genomes]
rs4899741	0.96[CEU][hapmap];0.81[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs4903847	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903848	0.96[CEU][hapmap];0.94[GIH][hapmap];0.96[TSI][hapmap]
rs4903854	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4903855	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8019980	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	esv3429119	chr14:79874849-79877397	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79867800-79877600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:79872600-79884800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:79873800-79875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:79873800-79875800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:79874000-79875800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:79874200-79877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:79874400-79877200	Weak transcription	NHEK	skin
8	chr14:79874600-79875600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:79874600-79875800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:79874600-79875800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:79874600-79877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:79874600-79878200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:79874800-79875600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:79874800-79875600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:79874800-79875600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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