Variant report

Variant	rs8056752
Chromosome Location	chr16:72076333-72076334
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72072556..72075421-chr16:72076238..72078955,2	K562	blood:
2	chr16:72073969..72076892-chr16:72128013..72130377,2	K562	blood:

Variant related genes	Relation type
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	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12325593	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs13332560	0.85[AMR][1000 genomes]
rs13333207	0.85[AMR][1000 genomes]
rs13334681	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13335854	0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13338949	1.00[AMR][1000 genomes]
rs16970697	1.00[AMR][1000 genomes]
rs16973619	0.81[YRI][hapmap]
rs16973640	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973723	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs28455724	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28483075	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28507713	1.00[AMR][1000 genomes]
rs28557204	1.00[AMR][1000 genomes]
rs28610193	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28639994	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35184823	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4788614	1.00[YRI][hapmap]
rs56978453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57024912	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61074815	1.00[AMR][1000 genomes]
rs7184834	0.90[YRI][hapmap]
rs7186117	0.90[YRI][hapmap];0.85[AMR][1000 genomes]
rs7186448	1.00[AMR][1000 genomes]
rs7188150	0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7188462	1.00[AMR][1000 genomes]
rs7189506	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7189654	0.95[YRI][hapmap];0.85[AMR][1000 genomes]
rs7191270	1.00[YRI][hapmap];0.91[AFR][1000 genomes];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	0.90[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];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8047881	0.95[YRI][hapmap]
rs8051438	0.85[AMR][1000 genomes]
rs8052025	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8055216	1.00[AMR][1000 genomes]
rs8056409	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8057379	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs8061292	0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8061439	0.96[AFR][1000 genomes];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	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs9925493	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs9932236	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs9933867	0.85[AMR][1000 genomes]
rs9934521	1.00[AMR][1000 genomes]
rs9940996	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs9972770	0.90[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	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72051400-72078600	Weak transcription	Fetal Kidney	kidney
2	chr16:72058200-72077000	Weak transcription	Colonic Mucosa	Colon
3	chr16:72058200-72078000	Weak transcription	Fetal Lung	lung
4	chr16:72059600-72084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:72060000-72079200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:72060200-72076400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:72060200-72080000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
10	chr16:72062200-72079600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr16:72062200-72080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:72062400-72076800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:72062400-72078000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr16:72062600-72079800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:72063800-72079800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:72075000-72077800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr16:72075200-72077600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:72075200-72078400	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr16:72075400-72077400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr16:72075400-72077400	Strong transcription	Brain Substantia Nigra	brain
21	chr16:72075400-72078000	Strong transcription	Brain Hippocampus Middle	brain
22	chr16:72075600-72076600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:72075600-72076600	Enhancers	Lung	lung
24	chr16:72075600-72076800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:72075600-72077400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr16:72075600-72077400	Enhancers	Pancreas	Pancrea
27	chr16:72075600-72077400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr16:72075600-72077400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr16:72075600-72078400	Strong transcription	Aorta	Aorta
30	chr16:72075600-72079600	Enhancers	HepG2	liver
31	chr16:72075800-72076400	Enhancers	Duodenum Mucosa	Duodenum
32	chr16:72075800-72076600	Enhancers	Primary hematopoietic stem cells	blood
33	chr16:72075800-72077400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:72075800-72077600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr16:72075800-72077800	Strong transcription	Brain Germinal Matrix	brain
36	chr16:72075800-72078000	Strong transcription	Primary B cells from cord blood	blood
37	chr16:72075800-72078000	Strong transcription	Fetal Brain Female	brain
38	chr16:72075800-72078000	Strong transcription	Ovary	ovary
39	chr16:72075800-72078200	Strong transcription	Brain Anterior Caudate	brain
40	chr16:72075800-72078400	Strong transcription	Primary T cells from cord blood	blood
41	chr16:72075800-72078600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr16:72076000-72076400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr16:72076000-72076400	Strong transcription	Colon Smooth Muscle	Colon
44	chr16:72076000-72076400	Enhancers	Fetal Muscle Leg	muscle
45	chr16:72076000-72076400	Strong transcription	Rectal Smooth Muscle	rectum
46	chr16:72076000-72076600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr16:72076000-72076600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:72076000-72076600	Genic enhancers	Adipose Nuclei	Adipose
49	chr16:72076000-72076600	Genic enhancers	Left Ventricle	heart
50	chr16:72076000-72076600	Enhancers	Spleen	Spleen

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