Variant report

Variant	rs12447423
Chromosome Location	chr16:71990781-71990782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71924634..71926164-chr16:71990513..71992754,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1035543	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10852508	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11647844	0.91[ASN][1000 genomes]
rs11647947	0.91[ASN][1000 genomes]
rs12445043	0.91[ASN][1000 genomes]
rs12445713	0.91[ASN][1000 genomes]
rs12448111	0.89[ASN][1000 genomes]
rs12708920	0.91[ASN][1000 genomes]
rs12925901	0.91[ASN][1000 genomes]
rs12926353	0.91[ASN][1000 genomes]
rs12927381	0.91[ASN][1000 genomes]
rs13337118	0.87[ASN][1000 genomes]
rs2303220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2878406	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34111614	0.81[ASN][1000 genomes]
rs4462592	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788587	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs58114621	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58609735	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60075093	0.88[ASN][1000 genomes]
rs62053839	0.89[EUR][1000 genomes]
rs7186518	0.89[ASN][1000 genomes]
rs7186712	0.91[ASN][1000 genomes]
rs7350856	0.81[ASN][1000 genomes]
rs8046159	0.91[ASN][1000 genomes]
rs8046703	0.88[ASN][1000 genomes]
rs8051124	0.91[ASN][1000 genomes]
rs8051364	0.91[ASN][1000 genomes]
rs8052028	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs952159	0.85[ASN][1000 genomes]
rs952160	0.85[ASN][1000 genomes]
rs9889100	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9921705	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922596	0.96[EUR][1000 genomes]
rs9925684	0.85[ASN][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:22 , 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	chr16:71989600-71995000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:71989800-71991200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:71990000-71990800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr16:71990200-71991000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr16:71990200-71991200	Enhancers	GM12878-XiMat	blood
8	chr16:71990400-71990800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr16:71990400-71990800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:71990400-71991000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:71990400-71991000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr16:71990400-71991000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr16:71990400-71991000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr16:71990400-71991000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr16:71990400-71991000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:71990400-71991000	Enhancers	Dnd41	blood
17	chr16:71990400-71991200	Enhancers	Primary B cells from cord blood	blood
18	chr16:71990600-71990800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:71990600-71991000	Enhancers	Primary T cells from cord blood	blood
20	chr16:71990600-71991000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:71990600-71991000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr16:71990600-71993600	Weak transcription	Primary B cells from peripheral blood	blood

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