Variant report

Variant	rs804901
Chromosome Location	chr16:81104752-81104753
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81102378..81105736-chr16:81109275..81112562,6	K562	blood:
2	chr16:81104152..81107798-chr16:81108570..81111013,4	MCF-7	breast:
3	chr16:81102378..81105736-chr16:81109334..81111887,5	K562	blood:

Variant related genes	Relation type
ENSG00000166455	Chromatin interaction
ENSG00000245059	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11150339	0.92[AFR][1000 genomes]
rs1563076	1.00[AMR][1000 genomes]
rs2045039	0.85[AFR][1000 genomes]
rs2316728	0.92[AFR][1000 genomes]
rs2549890	1.00[AMR][1000 genomes]
rs2549894	1.00[AMR][1000 genomes]
rs2549898	0.80[AFR][1000 genomes]
rs2602432	1.00[AMR][1000 genomes]
rs2602451	1.00[AMR][1000 genomes]
rs2602454	1.00[AMR][1000 genomes]
rs2911157	1.00[AMR][1000 genomes]
rs2911160	0.80[AFR][1000 genomes]
rs4889226	0.87[AFR][1000 genomes]
rs4889228	0.88[AFR][1000 genomes]
rs4889232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5023851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6420420	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564818	0.87[AFR][1000 genomes]
rs7187102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196170	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs754427	0.88[AFR][1000 genomes]
rs804888	1.00[AMR][1000 genomes]
rs804892	0.88[AFR][1000 genomes]
rs804898	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804900	0.88[AFR][1000 genomes]
rs8177853	0.89[AFR][1000 genomes]
rs8177931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935945	1.00[AMR][1000 genomes]
rs9923328	0.88[AFR][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:16 , 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	chr16:81095600-81109800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:81095800-81110200	Weak transcription	Fetal Stomach	stomach
8	chr16:81098200-81107200	Weak transcription	Placenta	Placenta
9	chr16:81098800-81104800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:81101000-81110000	Weak transcription	Fetal Brain Male	brain
11	chr16:81101600-81105200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:81102000-81109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:81103600-81108000	Weak transcription	Thymus	Thymus
14	chr16:81104600-81104800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:81104600-81105000	Flanking Active TSS	Fetal Heart	heart
16	chr16:81104600-81105000	Enhancers	Left Ventricle	heart

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