Variant report

Variant	rs56117555
Chromosome Location	chr16:81100642-81100643
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81097425..81099177-chr16:81100146..81103114,2	MCF-7	breast:
2	chr16:81100280..81102039-chr16:81103026..81105391,2	K562	blood:
3	chr16:81096522..81104265-chr16:81107324..81112531,10	MCF-7	breast:
4	chr16:81097663..81102945-chr16:81104726..81108274,4	K562	blood:
5	chr16:81083064..81085165-chr16:81098548..81100699,2	MCF-7	breast:
6	chr16:81099686..81101750-chr16:81106267..81108308,2	K562	blood:
7	chr16:81100539..81102214-chr16:81102627..81104526,2	K562	blood:

Variant related genes	Relation type
ENSG00000245059	Chromatin interaction
ENSG00000261838	Chromatin interaction
ENSG00000166455	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10400998	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10468366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332317	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954525	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16954528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954688	1.00[ASN][1000 genomes]
rs1869347	1.00[ASN][1000 genomes]
rs2549901	1.00[ASN][1000 genomes]
rs28469459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472979	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28586999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28709530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55648346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664147	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55894951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56077763	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56333013	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56378007	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56758545	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56838270	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57435835	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57687812	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57808460	1.00[AMR][1000 genomes]
rs57830624	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57906343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58418167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60277524	1.00[AMR][1000 genomes]
rs60573779	1.00[ASN][1000 genomes]
rs61343635	1.00[AMR][1000 genomes]
rs61435632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61438195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61495305	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564815	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6564816	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7187063	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7194808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198494	0.92[ASN][1000 genomes]
rs72827277	1.00[ASN][1000 genomes]
rs73597275	1.00[ASN][1000 genomes]
rs73599301	1.00[ASN][1000 genomes]
rs74028889	1.00[AMR][1000 genomes]
rs74028891	1.00[AMR][1000 genomes]
rs74028894	1.00[AMR][1000 genomes]
rs74028898	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs74028901	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74028902	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74030503	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74030505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045625	1.00[ASN][1000 genomes]
rs8061024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061203	1.00[ASN][1000 genomes]
rs8062432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177846	1.00[EUR][1000 genomes]
rs8177847	1.00[ASN][1000 genomes]
rs8177854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177859	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177868	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177870	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177872	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177873	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177874	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177877	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177881	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177890	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177895	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177910	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177924	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177927	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177928	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177930	0.92[ASN][1000 genomes]
rs8177932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177933	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177934	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177936	1.00[ASN][1000 genomes]
rs8177937	1.00[ASN][1000 genomes]
rs8177941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932197	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934205	0.85[ASN][1000 genomes]
rs9934220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937014	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1897	chr16:81060566-81105260	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	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
11	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81079400-81109800	Weak transcription	Brain Hippocampus Middle	brain
2	chr16:81080400-81110200	Weak transcription	Ovary	ovary
3	chr16:81092000-81106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81093000-81109800	Weak transcription	Brain Anterior Caudate	brain
5	chr16:81095000-81109400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:81095600-81101000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr16:81095600-81109800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:81095800-81110200	Weak transcription	Fetal Stomach	stomach
9	chr16:81097600-81104600	Weak transcription	Fetal Heart	heart
10	chr16:81098200-81107200	Weak transcription	Placenta	Placenta
11	chr16:81098800-81104800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:81099200-81101600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr16:81099800-81101000	Enhancers	Fetal Brain Male	brain
14	chr16:81100400-81101200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:81100600-81102800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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