Variant report

Variant	rs16994097
Chromosome Location	chr20:13634175-13634176
allele	G/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:32)

rs_ID	r²[population]
rs12106089	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs13037694	0.87[GIH][hapmap]
rs13038057	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13041435	0.94[EUR][1000 genomes]
rs13041895	0.97[EUR][1000 genomes]
rs13043094	0.87[YRI][hapmap]
rs13045526	1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs13045616	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994088	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994094	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34527054	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34892632	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34970733	0.81[EUR][1000 genomes]
rs35023928	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35026915	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35114574	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35652905	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35875212	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35954536	0.81[EUR][1000 genomes]
rs36033897	0.94[EUR][1000 genomes]
rs59771854	0.94[EUR][1000 genomes]
rs6042274	0.84[EUR][1000 genomes]
rs6042275	0.84[EUR][1000 genomes]
rs6042284	0.84[EUR][1000 genomes]
rs6105146	0.84[EUR][1000 genomes]
rs6109966	0.80[EUR][1000 genomes]
rs62207617	0.86[EUR][1000 genomes]
rs62207642	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62207643	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62207644	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74178049	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74178050	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv3437208	chr20:13632152-13636750	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13620200-13634800	Weak transcription	Right Atrium	heart
2	chr20:13631600-13634800	Weak transcription	Fetal Muscle Leg	muscle
3	chr20:13631600-13637200	Weak transcription	Fetal Lung	lung
4	chr20:13633600-13634200	Enhancers	Fetal Stomach	stomach
5	chr20:13633800-13635200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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