Variant report

Variant	esv2502666
Chromosome Location	chr16:46386025-46386029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4309558	chr16:46386026-46386027	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs58815199	chr16:46386027-46386028	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs57204152	chr16:46386029-46386030	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:119 , 50 per page) page: 1 2 3

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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