Variant report

Variant	rs16970697
Chromosome Location	chr16:72233184-72233185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72231856..72234002-chr16:72234236..72237028,2	MCF-7	breast:
2	chr16:72218425..72220336-chr16:72232606..72234720,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1049933	1.00[AMR][1000 genomes]
rs12325171	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12325593	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332560	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13333207	0.85[AMR][1000 genomes]
rs13334681	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13335854	0.85[AMR][1000 genomes]
rs13338949	1.00[AMR][1000 genomes]
rs16973640	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16973723	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28455724	0.85[AMR][1000 genomes]
rs28483075	0.85[AMR][1000 genomes]
rs28507713	1.00[AMR][1000 genomes]
rs28557204	1.00[AMR][1000 genomes]
rs28610193	0.85[AMR][1000 genomes]
rs28639994	1.00[AMR][1000 genomes]
rs35184823	1.00[AMR][1000 genomes]
rs4788614	1.00[YRI][hapmap]
rs56978453	1.00[AMR][1000 genomes]
rs57024912	0.85[AMR][1000 genomes]
rs61074815	1.00[AMR][1000 genomes]
rs7184834	0.95[YRI][hapmap]
rs7186117	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs7186448	1.00[AMR][1000 genomes]
rs7188150	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs7188462	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7189506	0.94[YRI][hapmap];0.85[AMR][1000 genomes]
rs7189654	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs7191270	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs7191499	1.00[AMR][1000 genomes]
rs7194569	1.00[AMR][1000 genomes]
rs7202157	0.83[AMR][1000 genomes]
rs7202158	0.83[AMR][1000 genomes]
rs7203195	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs73578560	1.00[AMR][1000 genomes]
rs73580679	1.00[AMR][1000 genomes]
rs73582412	1.00[AMR][1000 genomes]
rs8045316	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs8047881	1.00[YRI][hapmap]
rs8051438	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8052025	1.00[AMR][1000 genomes]
rs8055216	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056409	0.85[AMR][1000 genomes]
rs8056752	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs8057379	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061292	0.90[YRI][hapmap];0.85[AMR][1000 genomes]
rs8061439	0.85[AMR][1000 genomes]
rs9921052	0.85[AMR][1000 genomes]
rs9921752	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs9923961	1.00[AMR][1000 genomes]
rs9925476	0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925493	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932236	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs9933867	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9934521	1.00[AMR][1000 genomes]
rs9940996	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9972770	0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72222000-72235800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr16:72223000-72236400	Weak transcription	Primary B cells from cord blood	blood
3	chr16:72228600-72236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:72228800-72236600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:72229200-72234400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:72229200-72240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:72231000-72233200	Enhancers	Fetal Stomach	stomach
8	chr16:72231000-72234200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr16:72231000-72234600	Enhancers	Fetal Lung	lung
10	chr16:72231200-72233200	Enhancers	Fetal Muscle Trunk	muscle
11	chr16:72231200-72234000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:72231400-72233200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:72231400-72233200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:72231400-72234000	Enhancers	Fetal Muscle Leg	muscle
15	chr16:72231800-72233200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:72232000-72234000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:72232000-72234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:72232000-72236600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:72232200-72236000	Enhancers	Fetal Brain Male	brain
20	chr16:72232400-72233200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr16:72232400-72237000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:72232600-72233400	Enhancers	Brain Germinal Matrix	brain
23	chr16:72232600-72234600	Enhancers	Brain Angular Gyrus	brain
24	chr16:72232600-72234600	Enhancers	Brain Substantia Nigra	brain
25	chr16:72232600-72235400	Enhancers	Fetal Brain Female	brain
26	chr16:72232600-72236000	Weak transcription	NHDF-Ad	bronchial
27	chr16:72232800-72233200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr16:72232800-72233200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:72232800-72233200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr16:72232800-72233200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr16:72232800-72233200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr16:72232800-72233200	Enhancers	Pancreas	Pancrea
33	chr16:72232800-72233400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:72232800-72233400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr16:72232800-72233800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr16:72232800-72233800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr16:72232800-72234400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:72233000-72233200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
39	chr16:72233000-72233200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr16:72233000-72233200	Enhancers	Right Atrium	heart
41	chr16:72233000-72234600	Enhancers	Brain Cingulate Gyrus	brain
42	chr16:72233000-72237200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:72233000-72240400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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