Variant report

Variant	esv2526020
Chromosome Location	chr16:46390739-46390816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28778052	chr16:46390740-46390741	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs11486470	chr16:46390741-46390742	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs7191556	chr16:46390745-46390746	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs28864390	chr16:46390746-46390747	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs28798249	chr16:46390747-46390748	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs4404095	chr16:46390749-46390750	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9796843	chr16:46390750-46390751	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4609877	chr16:46390751-46390752	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs56959057	chr16:46390752-46390753	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28826681	chr16:46390753-46390754	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs28783530	chr16:46390754-46390755	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs28859375	chr16:46390757-46390758	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28894824	chr16:46390758-46390759	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4307969	chr16:46390759-46390760	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28846192	chr16:46390761-46390762	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs28818597	chr16:46390762-46390763	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7404317	chr16:46390765-46390766	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs28872173	chr16:46390766-46390767	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs28806268	chr16:46390767-46390768	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11488966	chr16:46390769-46390770	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs56692028	chr16:46390770-46390771	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs28866633	chr16:46390771-46390772	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs60332851	chr16:46390772-46390773	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4488476	chr16:46390773-46390774	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs28782025	chr16:46390774-46390775	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs28861721	chr16:46390775-46390776	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs28767548	chr16:46390776-46390777	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4966697	chr16:46390777-46390778	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4967567	chr16:46390779-46390780	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs60384159	chr16:46390780-46390781	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs28799969	chr16:46390781-46390782	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs28895644	chr16:46390782-46390783	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs28798779	chr16:46390783-46390784	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs28896589	chr16:46390784-46390785	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs28829350	chr16:46390785-46390786	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs28843377	chr16:46390788-46390789	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs10221086	chr16:46390789-46390790	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs28823064	chr16:46390791-46390792	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28762178	chr16:46390792-46390793	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs4643352	chr16:46390794-46390795	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10438644	chr16:46390795-46390796	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs4967572	chr16:46390798-46390799	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12597009	chr16:46390800-46390801	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs28873819	chr16:46390801-46390802	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28760934	chr16:46390802-46390803	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9674133	chr16:46390803-46390804	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs28768815	chr16:46390804-46390805	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs4967574	chr16:46390805-46390806	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4422004	chr16:46390807-46390808	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs28882116	chr16:46390808-46390809	ZNF genes & repeats 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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46393400	ZNF genes & repeats	Aorta	Aorta
2	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
14	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
16	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
17	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
20	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
28	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
29	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr16:46387600-46391800	ZNF genes & repeats	Hela-S3	cervix
31	chr16:46387600-46394600	ZNF genes & repeats	A549	lung
32	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
33	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
36	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
37	chr16:46388000-46394600	ZNF genes & repeats	HSMMtube	muscle
38	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
43	chr16:46388200-46393400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:46388200-46393400	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr16:46388200-46393400	ZNF genes & repeats	K562	blood
46	chr16:46388200-46396800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
50	chr16:46388400-46393400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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