Variant report

Variant	rs7189506
Chromosome Location	chr16:72035414-72035415
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	chr16:71916441..71919299-chr16:72035111..72037347,2	MCF-7	breast:
2	chr16:72027985..72030147-chr16:72034897..72037159,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1049933	0.85[AMR][1000 genomes]
rs12325171	0.94[YRI][hapmap];0.85[AMR][1000 genomes]
rs12325593	0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs13333207	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334681	0.94[YRI][hapmap];0.85[AMR][1000 genomes]
rs13335854	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338949	0.85[AMR][1000 genomes]
rs16970697	0.85[AMR][1000 genomes]
rs16973619	0.82[YRI][hapmap]
rs16973640	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16973723	0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs28455724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507713	0.85[AMR][1000 genomes]
rs28557204	0.85[AMR][1000 genomes]
rs28610193	0.84[AFR][1000 genomes]
rs28639994	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35184823	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4788614	0.94[YRI][hapmap]
rs56978453	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57024912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61074815	0.85[AMR][1000 genomes]
rs7184834	0.88[YRI][hapmap]
rs7186117	0.88[YRI][hapmap]
rs7186448	0.85[AMR][1000 genomes]
rs7188150	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188462	0.85[AMR][1000 genomes]
rs7189654	0.88[YRI][hapmap]
rs7191270	0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7191499	0.85[AMR][1000 genomes]
rs7194569	0.85[AMR][1000 genomes]
rs7203195	0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs73578560	0.85[AMR][1000 genomes]
rs73580679	0.85[AMR][1000 genomes]
rs73582412	0.85[AMR][1000 genomes]
rs8045316	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047881	0.94[YRI][hapmap]
rs8052025	0.85[AMR][1000 genomes]
rs8055216	0.85[AMR][1000 genomes]
rs8056409	0.84[AFR][1000 genomes]
rs8056752	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8057379	0.94[YRI][hapmap];0.85[AMR][1000 genomes]
rs8061292	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921752	0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs9923961	0.85[AMR][1000 genomes]
rs9925225	0.88[YRI][hapmap]
rs9925476	0.85[AMR][1000 genomes]
rs9925493	0.94[YRI][hapmap];0.85[AMR][1000 genomes]
rs9932236	0.85[AMR][1000 genomes]
rs9934521	0.85[AMR][1000 genomes]
rs9940996	0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs9972770	0.88[YRI][hapmap]

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	nsv906894	chr16:72013539-72046211	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72034000-72035800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr16:72034800-72035600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr16:72035000-72035600	Enhancers	Fetal Muscle Leg	muscle
4	chr16:72035000-72035800	Enhancers	Duodenum Mucosa	Duodenum
5	chr16:72035000-72037800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr16:72035400-72035800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr16:72035400-72036000	Flanking Active TSS	HepG2	liver

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