Variant report

Variant	esv3347481
Chromosome Location	chr16:35229151-35234167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 816 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141663236	chr16:35229154-35229155	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs199557217	chr16:35229159-35229160	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs374954990	chr16:35229160-35229161	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375691258	chr16:35229180-35229181	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200425947	chr16:35229182-35229183	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559437433	chr16:35229186-35229187	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201482081	chr16:35229188-35229189	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368359838	chr16:35229194-35229195	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62057462	chr16:35229195-35229196	ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369163124	chr16:35229203-35229204	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62057463	chr16:35229204-35229205	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112726991	chr16:35229207-35229208	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533248059	chr16:35229209-35229210	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111351384	chr16:35229211-35229212	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs199783236	chr16:35229212-35229213	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200505229	chr16:35229215-35229216	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs201684772	chr16:35229218-35229219	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376075490	chr16:35229221-35229222	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs62057464	chr16:35229232-35229233	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200744404	chr16:35229238-35229239	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs371581980	chr16:35229245-35229246	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550973966	chr16:35229256-35229257	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374396462	chr16:35229257-35229258	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569266129	chr16:35229258-35229259	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs201918622	chr16:35229265-35229266	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs62057465	chr16:35229266-35229267	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs377677769	chr16:35229267-35229268	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370989404	chr16:35229274-35229275	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs62057466	chr16:35229283-35229284	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201764853	chr16:35229284-35229285	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548630647	chr16:35229285-35229286	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs113085228	chr16:35229288-35229289	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs111659045	chr16:35229291-35229292	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs142754011	chr16:35229293-35229294	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs567336386	chr16:35229296-35229297	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368046295	chr16:35229301-35229302	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139427913	chr16:35229307-35229308	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370428152	chr16:35229308-35229309	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535700550	chr16:35229319-35229320	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148529088	chr16:35229320-35229321	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148934084	chr16:35229322-35229323	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138837983	chr16:35229325-35229326	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs149453276	chr16:35229330-35229331	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561685195	chr16:35229334-35229335	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112500795	chr16:35229337-35229338	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs113428479	chr16:35229343-35229344	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140136346	chr16:35229358-35229359	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs145197763	chr16:35229366-35229367	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs572691395	chr16:35229367-35229368	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141312066	chr16:35229372-35229373	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Ductal carcinoma	22052326	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
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35224400-35237800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:35224600-35243000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:35226600-35229600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr16:35227400-35242800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr16:35228600-35229600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr16:35228600-35229600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr16:35228800-35229200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:35228800-35229400	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr16:35228800-35229400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr16:35228800-35229600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:35229000-35229200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr16:35229000-35229200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:35229000-35229200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
14	chr16:35229000-35229200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr16:35229000-35229200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:35229000-35229200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:35229000-35229200	ZNF genes & repeats	Fetal Kidney	kidney
18	chr16:35229000-35229200	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
19	chr16:35229000-35229200	ZNF genes & repeats	HSMMtube	muscle
20	chr16:35229000-35229400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr16:35229000-35229400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr16:35229000-35229400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:35229000-35229400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:35229000-35229400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:35229000-35229400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
26	chr16:35229000-35229400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:35229000-35229400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:35229000-35229400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr16:35229000-35229400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr16:35229000-35229400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
33	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
34	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:35229000-35229400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:35229000-35229400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr16:35229000-35229400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
39	chr16:35229000-35229400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:35229000-35229400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
41	chr16:35229000-35229400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:35229000-35229400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:35229000-35229400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr16:35229000-35229400	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr16:35229000-35229400	ZNF genes & repeats	Aorta	Aorta
46	chr16:35229000-35229400	ZNF genes & repeats	Liver	Liver
47	chr16:35229000-35229400	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr16:35229000-35229400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
49	chr16:35229000-35229400	ZNF genes & repeats	Brain Hippocampus Middle	brain
50	chr16:35229000-35229400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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