Variant report

Variant	rs16973723
Chromosome Location	chr16:72164732-72164733
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72164371..72166445-chr16:72168033..72170206,2	K562	blood:
2	chr16:72125969..72129081-chr16:72163635..72166689,3	K562	blood:

Variant related genes	Relation type
ENSG00000140829	Chromatin interaction
ENSG00000140830	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1049933	1.00[AMR][1000 genomes]
rs12325171	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs12325593	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332560	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13333207	0.85[AMR][1000 genomes]
rs13334681	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs13335854	0.85[AMR][1000 genomes]
rs13338949	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970697	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973640	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs28455724	0.85[AMR][1000 genomes]
rs28483075	0.85[AMR][1000 genomes]
rs28507713	1.00[AMR][1000 genomes]
rs28557204	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28610193	0.85[AMR][1000 genomes]
rs28639994	1.00[AMR][1000 genomes]
rs35184823	1.00[AMR][1000 genomes]
rs4788614	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs56978453	1.00[AMR][1000 genomes]
rs57024912	0.85[AMR][1000 genomes]
rs61074815	1.00[AMR][1000 genomes]
rs7184834	1.00[YRI][hapmap]
rs7186117	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7186448	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188150	0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs7188462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7189506	0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs7189654	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7191270	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs7191499	1.00[AMR][1000 genomes]
rs7194569	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202157	0.83[AMR][1000 genomes]
rs7202158	0.83[AMR][1000 genomes]
rs7203195	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578560	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580679	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582412	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045316	0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs8047881	0.95[YRI][hapmap]
rs8051438	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8052025	1.00[AMR][1000 genomes]
rs8055216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056409	0.85[AMR][1000 genomes]
rs8056752	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs8057379	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061292	0.85[YRI][hapmap];0.85[AMR][1000 genomes]
rs8061439	0.85[AMR][1000 genomes]
rs9921052	0.85[AMR][1000 genomes]
rs9921752	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925225	0.84[YRI][hapmap]
rs9925476	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs9925493	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932236	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs9933867	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9934521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940996	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9972770	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72146600-72166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:72147000-72164800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:72147000-72172200	Weak transcription	Dnd41	blood
4	chr16:72147400-72164800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:72147600-72165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr16:72147800-72170000	Weak transcription	Thymus	Thymus
7	chr16:72159200-72165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:72159400-72170200	Weak transcription	Fetal Stomach	stomach
9	chr16:72159600-72168000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:72159800-72169800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:72160000-72164800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:72160000-72172400	Weak transcription	Fetal Intestine Small	intestine
13	chr16:72160000-72173400	Weak transcription	Pancreas	Pancrea
14	chr16:72160400-72166400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:72160600-72167800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:72160600-72171400	Weak transcription	HepG2	liver
17	chr16:72160600-72171600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:72162000-72165600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:72163200-72164800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:72163200-72164800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:72164200-72165400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr16:72164200-72165400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr16:72164400-72167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:72164600-72165000	Enhancers	HSMMtube	muscle
25	chr16:72164600-72165200	Enhancers	Osteobl	bone

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