Variant report

Variant	rs2218782
Chromosome Location	chr14:79842739-79842740
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:36)

rs_ID	r²[population]
rs10450934	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10450935	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11159404	0.90[EUR][1000 genomes]
rs11159408	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11622878	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625634	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888219	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12888940	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17109102	0.94[EUR][1000 genomes]
rs17758133	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1984716	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1993009	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1993011	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1993012	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2164434	0.86[AMR][1000 genomes]
rs2164435	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2196444	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2196446	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2197988	0.90[EUR][1000 genomes]
rs2217887	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2574750	0.86[AMR][1000 genomes]
rs2574751	0.86[AMR][1000 genomes]
rs2574752	0.86[AMR][1000 genomes]
rs2597086	0.86[AMR][1000 genomes]
rs2597087	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2597089	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2597091	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2597092	0.86[AMR][1000 genomes]
rs34094616	0.87[AMR][1000 genomes]
rs34848585	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35820490	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35993073	0.90[EUR][1000 genomes]
rs61993113	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61993118	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs714276	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs954860	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3377779	chr14:79841649-79843597	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
6	esv3371621	chr14:79842099-79843197	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79836600-79843000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:79839400-79844600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:79839400-79846000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:79840200-79846000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:79841000-79844200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:79842000-79842800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:79842000-79844200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:79842000-79844200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:79842000-79844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:79842200-79845600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:79842600-79844200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:79842600-79844200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:79842600-79846200	Enhancers	HUES6 Cell Line	embryonic stem cell

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