Variant report

Variant	rs8049509
Chromosome Location	chr16:81132850-81132851
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81128667..81130773-chr16:81131741..81134300,2	MCF-7	breast:
2	chr16:81039111..81042091-chr16:81131038..81132906,2	MCF-7	breast:
3	chr16:81038549..81041288-chr16:81132272..81134498,2	K562	blood:
4	chr16:81109098..81111564-chr16:81131905..81134616,2	K562	blood:
5	chr16:81128142..81131437-chr16:81131479..81134618,4	K562	blood:

Variant related genes	Relation type
ENSG00000166451	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166455	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10514512	0.84[CHB][hapmap]
rs10514513	0.80[MEX][hapmap]
rs10514514	0.80[MEX][hapmap]
rs11150338	0.83[EUR][1000 genomes]
rs12443549	0.85[CHD][hapmap];0.80[MEX][hapmap]
rs12444137	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs1563076	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs16944340	0.85[MEX][hapmap]
rs16954582	0.80[MEX][hapmap]
rs1814543	0.87[ASN][1000 genomes]
rs2123624	0.86[MEX][hapmap]
rs2278022	0.80[MEX][hapmap]
rs2316731	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs2317085	0.93[ASN][1000 genomes]
rs2317086	0.93[ASN][1000 genomes]
rs2549890	0.81[AFR][1000 genomes]
rs2602401	1.00[MEX][hapmap]
rs2602432	0.84[AFR][1000 genomes]
rs2602451	0.83[AFR][1000 genomes]
rs2602454	0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs2911157	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs3784815	0.83[EUR][1000 genomes]
rs3826049	0.83[EUR][1000 genomes]
rs4324141	0.80[MEX][hapmap]
rs4454990	0.92[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.89[ASN][1000 genomes]
rs55939311	0.80[ASN][1000 genomes]
rs60481447	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564821	0.82[CHD][hapmap]
rs73597259	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73597265	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8044914	1.00[EUR][1000 genomes]
rs8045357	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs804888	0.85[AFR][1000 genomes]
rs8050906	1.00[EUR][1000 genomes]
rs8053975	0.87[CHD][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059153	0.87[CHD][hapmap];0.86[MEX][hapmap]
rs8059621	1.00[EUR][1000 genomes]
rs8177843	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8177940	0.84[CHB][hapmap]
rs8177959	0.80[MEX][hapmap]
rs935945	0.87[ASW][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs9925943	0.80[MEX][hapmap]
rs9926174	0.80[MEX][hapmap]
rs9935436	0.85[ASN][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	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
5	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers 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
10	nsv1067144	chr16:81129298-81181641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
3	chr16:81131000-81140400	Weak transcription	Adipose Nuclei	Adipose
4	chr16:81131200-81136400	Weak transcription	HepG2	liver
5	chr16:81132200-81133000	Enhancers	K562	blood
6	chr16:81132200-81133400	Weak transcription	Placenta	Placenta

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