Variant report

Variant	rs12445043
Chromosome Location	chr16:71995315-71995316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71988031..71990752-chr16:71994880..71997140,2	K562	blood:
2	chr16:71780313..71780916-chr16:71995065..71995870,2	MCF-7	breast:
3	chr16:71880303..71880911-chr16:71995074..71995598,2	MCF-7	breast:
4	chr16:71917541..71918434-chr16:71995070..71995707,2	K562	blood:
5	chr16:71916749..71918531-chr16:71994813..71997019,2	MCF-7	breast:
6	chr16:71879940..71882947-chr16:71994188..71997144,3	MCF-7	breast:
7	chr16:71927425..71930788-chr16:71993636..71995845,3	MCF-7	breast:
8	chr16:71981622..71984385-chr16:71994653..71997032,2	MCF-7	breast:
9	chr16:71917299..71918017-chr16:71995178..71995991,2	MCF-7	breast:
10	chr16:71679083..71679969-chr16:71995039..71995544,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224470	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1035543	0.82[ASN][1000 genomes]
rs10852506	0.85[ASN][1000 genomes]
rs10852508	0.91[ASN][1000 genomes]
rs11647844	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11647947	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149869	0.86[AFR][1000 genomes]
rs12149877	0.83[AFR][1000 genomes]
rs12445713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447423	0.91[ASN][1000 genomes]
rs12448111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12708920	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708921	0.82[AFR][1000 genomes]
rs12708922	0.82[AFR][1000 genomes]
rs12919947	0.81[ASN][1000 genomes]
rs12925901	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12926353	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12926408	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12927381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973520	0.85[AFR][1000 genomes]
rs2303220	0.88[ASN][1000 genomes]
rs28629271	0.81[AFR][1000 genomes]
rs2878406	0.91[ASN][1000 genomes]
rs4462592	0.91[ASN][1000 genomes]
rs58114621	0.91[ASN][1000 genomes]
rs58609735	0.86[ASN][1000 genomes]
rs60075093	0.80[ASN][1000 genomes]
rs6499553	0.81[AFR][1000 genomes]
rs7186518	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7186712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8047643	0.81[AFR][1000 genomes]
rs8051124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052028	0.89[ASN][1000 genomes]
rs8053217	0.81[AFR][1000 genomes]
rs9889100	0.88[ASN][1000 genomes]
rs9921705	0.91[ASN][1000 genomes]
rs9925462	0.82[AFR][1000 genomes]
rs9928413	0.82[AFR][1000 genomes]
rs9930930	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969600-71999200	Weak transcription	Liver	Liver
3	chr16:71994200-71999000	Weak transcription	Stomach Mucosa	stomach
4	chr16:71995000-71995600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:71995000-71996000	Enhancers	HepG2	liver
6	chr16:71995200-71995600	Enhancers	Brain Anterior Caudate	brain
7	chr16:71995200-71995800	Enhancers	Primary B cells from peripheral blood	blood
8	chr16:71995200-71995800	Enhancers	Brain Cingulate Gyrus	brain
9	chr16:71995200-71995800	Enhancers	Colon Smooth Muscle	Colon
10	chr16:71995200-71996000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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