Variant report

Variant	rs11648557
Chromosome Location	chr16:72010192-72010193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10500567	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10852505	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11075910	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11644740	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11861296	0.82[JPT][hapmap]
rs11865456	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12149307	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12149325	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12149460	0.82[JPT][hapmap]
rs12445564	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12445641	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12708919	1.00[CHB][hapmap]
rs12934512	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17357420	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17358402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2288030	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2878494	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3751820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4528577	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4788568	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4788575	0.85[JPT][hapmap]
rs4788579	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7188591	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7191441	0.94[EUR][1000 genomes]
rs7191463	0.95[EUR][1000 genomes]
rs7191717	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7195072	1.00[CEU][hapmap]
rs7195988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7197486	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7198834	1.00[JPT][hapmap]
rs7202840	1.00[CHB][hapmap]
rs72787018	0.94[EUR][1000 genomes]
rs72787023	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72787025	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72787027	0.81[EUR][1000 genomes]
rs72787028	0.80[EUR][1000 genomes]
rs72803749	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72803753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72803757	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72803761	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050058	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8051878	1.00[CHB][hapmap]
rs8052358	1.00[JPT][hapmap]
rs9939911	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9940234	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv572950	chr16:71988728-72020323	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv103854	chr16:72010180-72011459	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71999600-72010600	Weak transcription	Liver	Liver
2	chr16:72007200-72013400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:72008800-72013400	Weak transcription	HepG2	liver

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