Variant report

Variant	rs1993009
Chromosome Location	chr14:79847464-79847465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10450934	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10450935	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10873322	0.81[AMR][1000 genomes]
rs11159404	0.86[EUR][1000 genomes]
rs11159408	0.87[CEU][hapmap];0.92[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11622878	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625634	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12888219	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12888940	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17109102	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17758133	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1984716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1993011	0.87[CEU][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1993012	0.83[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2164434	0.82[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2164435	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2196444	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2196446	0.83[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2197988	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs2217887	0.81[CEU][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2218782	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2574750	0.83[CEU][hapmap];0.87[AMR][1000 genomes]
rs2574751	0.83[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2574752	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2597086	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2597087	0.83[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2597089	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2597091	0.83[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2597092	0.83[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34094616	0.88[AMR][1000 genomes]
rs34848585	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35820490	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35993073	0.86[EUR][1000 genomes]
rs4603484	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs61993113	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61993118	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs714276	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs954860	0.81[CEU][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.80[ASN][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79843400-79849800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:79843800-79848400	Weak transcription	Fetal Brain Male	brain
3	chr14:79845800-79848800	Weak transcription	Brain Germinal Matrix	brain
4	chr14:79846000-79849600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:79846000-79849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:79846200-79847800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:79846200-79849800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:79846400-79849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:79846400-79850000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:79846400-79850800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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