Variant report

Variant	rs71400138
Chromosome Location	chr16:81097645-81097646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81096522..81104265-chr16:81107324..81112531,10	MCF-7	breast:
2	chr16:81069323..81071129-chr16:81095965..81099347,3	MCF-7	breast:
3	chr16:81097425..81099177-chr16:81100146..81103114,2	MCF-7	breast:
4	chr16:81083129..81085319-chr16:81095819..81098738,2	K562	blood:
5	chr16:81091735..81094640-chr16:81096464..81099185,2	K562	blood:

Variant related genes	Relation type
ENSG00000166455	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000245059	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs12918103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12919463	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12919980	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12920066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12920959	1.00[AMR][1000 genomes]
rs12921900	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12921990	1.00[EUR][1000 genomes]
rs12922449	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12924576	1.00[AMR][1000 genomes]
rs12924715	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12924719	1.00[EUR][1000 genomes]
rs12928381	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12928648	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12928790	1.00[EUR][1000 genomes]
rs12929250	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12930046	1.00[EUR][1000 genomes]
rs12930202	1.00[EUR][1000 genomes]
rs12931555	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12931678	1.00[EUR][1000 genomes]
rs12931766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12931852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12932119	1.00[EUR][1000 genomes]
rs12932272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12932466	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12933920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329702	1.00[EUR][1000 genomes]
rs13333603	1.00[EUR][1000 genomes]
rs13336113	1.00[EUR][1000 genomes]
rs2241408	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278021	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278023	0.89[ASN][1000 genomes]
rs2303214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2549893	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34075739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34082687	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34105513	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34262209	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34270219	1.00[EUR][1000 genomes]
rs34277507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34529307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34545373	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34586837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34638844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34699659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34966856	1.00[EUR][1000 genomes]
rs34984547	1.00[AMR][1000 genomes]
rs34992819	1.00[EUR][1000 genomes]
rs35011155	1.00[EUR][1000 genomes]
rs35035454	0.87[EUR][1000 genomes]
rs35110550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35117857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35161190	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35282277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35292442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35552248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35555542	1.00[AMR][1000 genomes]
rs35674322	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35887664	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35890164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35899445	1.00[EUR][1000 genomes]
rs36040615	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36052656	1.00[EUR][1000 genomes]
rs36056886	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36099793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3759931	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57203494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71400131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71400134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71400135	1.00[EUR][1000 genomes]
rs71400136	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71400137	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71400140	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71400141	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71400142	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7200400	0.89[EUR][1000 genomes]
rs7202356	1.00[EUR][1000 genomes]
rs754428	0.89[EUR][1000 genomes]
rs804893	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8062810	1.00[EUR][1000 genomes]
rs8177862	1.00[EUR][1000 genomes]
rs8177863	1.00[EUR][1000 genomes]
rs8177878	1.00[EUR][1000 genomes]
rs8177891	1.00[EUR][1000 genomes]
rs8177919	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8177938	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9922227	1.00[EUR][1000 genomes]
rs9930427	1.00[EUR][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:14 , 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	chr16:81083800-81099800	Weak transcription	Brain Angular Gyrus	brain
4	chr16:81092000-81106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:81093000-81109800	Weak transcription	Brain Anterior Caudate	brain
6	chr16:81093200-81100200	Weak transcription	Brain Germinal Matrix	brain
7	chr16:81093600-81100000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:81094600-81098000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:81095000-81109400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:81095600-81101000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr16:81095600-81109800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:81095800-81110200	Weak transcription	Fetal Stomach	stomach
13	chr16:81097200-81098200	Enhancers	Placenta	Placenta
14	chr16:81097600-81104600	Weak transcription	Fetal Heart	heart

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