Variant report

Variant	esv3327059
Chromosome Location	chr16:46386277-46400095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153517592..153518263-chr16:46386666..46387228,2	Hela-S3	cervix:

Extended variants
information (count: 6574 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:6574 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59421766	chr16:46386277-46386278	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111129914	chr16:46386285-46386286	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs4517818	chr16:46386286-46386287	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs28887184	chr16:46386287-46386288	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4496176	chr16:46386288-46386289	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs6598765	chr16:46386290-46386291	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs28871906	chr16:46386294-46386295	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs8059506	chr16:46386295-46386296	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4627389	chr16:46386298-46386299	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28898400	chr16:46386305-46386306	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs28822388	chr16:46386307-46386308	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9939610	chr16:46386309-46386310	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28853570	chr16:46386310-46386311	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs9936207	chr16:46386311-46386312	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28884862	chr16:46386314-46386315	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs59914787	chr16:46386315-46386316	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs9939614	chr16:46386317-46386318	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4530163	chr16:46386320-46386321	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs28863908	chr16:46386326-46386327	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs9939617	chr16:46386332-46386333	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76764845	chr16:46386337-46386338	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs28804380	chr16:46386342-46386343	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77959270	chr16:46386343-46386344	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs28888116	chr16:46386345-46386346	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141261231	chr16:46386346-46386347	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs9936216	chr16:46386347-46386348	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs8058525	chr16:46386349-46386350	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4638770	chr16:46386350-46386351	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs57308025	chr16:46386352-46386353	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs60183169	chr16:46386356-46386357	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75977836	chr16:46386357-46386358	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs75011100	chr16:46386358-46386359	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs60927342	chr16:46386359-46386360	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs9938495	chr16:46386365-46386366	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs28780715	chr16:46386366-46386367	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs60312373	chr16:46386368-46386369	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs28785911	chr16:46386369-46386370	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9746815	chr16:46386371-46386372	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28667242	chr16:46386374-46386375	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs7200448	chr16:46386375-46386376	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145925403	chr16:46386376-46386377	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs4966728	chr16:46386378-46386379	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12325197	chr16:46386379-46386380	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs28444439	chr16:46386380-46386381	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs9939635	chr16:46386381-46386382	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9745963	chr16:46386382-46386383	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs9928845	chr16:46386386-46386387	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2890438	chr16:46386387-46386388	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs28604994	chr16:46386388-46386389	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs28373791	chr16:46386389-46386390	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46386800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:46385800-46386800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:46385800-46386800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:46385800-46386800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:46385800-46386800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:46385800-46386800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
7	chr16:46385800-46386800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
8	chr16:46385800-46386800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:46385800-46386800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr16:46385800-46386800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:46385800-46386800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
12	chr16:46385800-46386800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
13	chr16:46385800-46386800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
14	chr16:46385800-46386800	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr16:46385800-46386800	ZNF genes & repeats	Brain Angular Gyrus	brain
16	chr16:46385800-46386800	ZNF genes & repeats	Brain Anterior Caudate	brain
17	chr16:46385800-46386800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
18	chr16:46385800-46386800	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr16:46385800-46386800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
20	chr16:46385800-46386800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:46385800-46386800	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr16:46385800-46386800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr16:46385800-46386800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
24	chr16:46385800-46386800	ZNF genes & repeats	Fetal Heart	heart
25	chr16:46385800-46386800	ZNF genes & repeats	Fetal Kidney	kidney
26	chr16:46385800-46386800	ZNF genes & repeats	Fetal Lung	lung
27	chr16:46385800-46386800	ZNF genes & repeats	Ovary	ovary
28	chr16:46385800-46386800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
29	chr16:46385800-46386800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
30	chr16:46385800-46386800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
31	chr16:46385800-46386800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
32	chr16:46385800-46386800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr16:46385800-46386800	ZNF genes & repeats	Stomach Mucosa	stomach
34	chr16:46385800-46386800	ZNF genes & repeats	Thymus	Thymus
35	chr16:46385800-46386800	ZNF genes & repeats	A549	lung
36	chr16:46385800-46386800	ZNF genes & repeats	Dnd41	blood
37	chr16:46385800-46386800	ZNF genes & repeats	GM12878-XiMat	blood
38	chr16:46385800-46386800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
39	chr16:46385800-46386800	ZNF genes & repeats	HSMMtube	muscle
40	chr16:46385800-46386800	ZNF genes & repeats	HUVEC	blood vessel
41	chr16:46385800-46386800	ZNF genes & repeats	NH-A	brain
42	chr16:46385800-46386800	ZNF genes & repeats	NHDF-Ad	bronchial
43	chr16:46385800-46386800	ZNF genes & repeats	NHEK	skin
44	chr16:46385800-46386800	ZNF genes & repeats	NHLF	lung
45	chr16:46385800-46386800	ZNF genes & repeats	Osteobl	bone
46	chr16:46385800-46387000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:46385800-46388400	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr16:46385800-46393400	ZNF genes & repeats	Aorta	Aorta
49	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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