Variant report

Variant	rs9939404
Chromosome Location	chr16:71977101-71977102
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71968291..71970171-chr16:71976434..71979180,2	K562	blood:
2	chr16:71970740..71973966-chr16:71975029..71978024,3	K562	blood:
3	chr16:71972962..71974935-chr16:71975600..71978155,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10500567	0.88[YRI][hapmap]
rs10852505	0.92[YRI][hapmap]
rs11075909	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863771	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865456	0.87[YRI][hapmap]
rs13330881	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28421940	0.93[AFR][1000 genomes]
rs28560350	1.00[AMR][1000 genomes]
rs28602614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28654218	1.00[AMR][1000 genomes]
rs2878494	0.92[YRI][hapmap]
rs35999277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3751820	0.87[YRI][hapmap]
rs7187418	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188591	0.91[YRI][hapmap]
rs7197486	0.87[YRI][hapmap]
rs7198834	0.91[YRI][hapmap]
rs73574480	1.00[AMR][1000 genomes]
rs73578401	0.87[AMR][1000 genomes]
rs73586193	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73588120	0.97[AFR][1000 genomes]
rs73588121	0.97[AFR][1000 genomes]
rs8050058	0.87[YRI][hapmap]
rs8051202	1.00[AMR][1000 genomes]
rs8051875	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8052358	0.91[YRI][hapmap]
rs8054602	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928364	1.00[AMR][1000 genomes]
rs9938542	1.00[AMR][1000 genomes]
rs9940234	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
6	nsv516948	chr16:71965725-71988728	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	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
8	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
9	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
10	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969400-71977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:71969600-71977400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr16:71969600-71977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:71969600-71978000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
7	chr16:71969600-71999200	Weak transcription	Liver	Liver
8	chr16:71969800-71977600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:71969800-71980600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:71973200-71977800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:71976400-71977800	Enhancers	K562	blood

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