Variant report

Variant	esv2615431
Chromosome Location	chr16:46404675-46405005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 229 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28749279	chr16:46404675-46404676	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs28882083	chr16:46404676-46404677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs28887285	chr16:46404677-46404678	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs28884769	chr16:46404678-46404679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs28831810	chr16:46404682-46404683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs9635615	chr16:46404683-46404684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28808075	chr16:46404684-46404685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4408568	chr16:46404686-46404687	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4505355	chr16:46404687-46404688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs58788668	chr16:46404691-46404692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs4302068	chr16:46404692-46404693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs28813552	chr16:46404695-46404696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs55924045	chr16:46404696-46404697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs58305345	chr16:46404697-46404698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs57931450	chr16:46404698-46404699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12446449	chr16:46404699-46404700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs56673853	chr16:46404703-46404704	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs57949491	chr16:46404704-46404705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs28798371	chr16:46404705-46404706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs28783806	chr16:46404707-46404708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs28872602	chr16:46404708-46404709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs71296860	chr16:46404710-46404711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs56987840	chr16:46404711-46404712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs55914660	chr16:46404712-46404713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12448259	chr16:46404715-46404716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4966500	chr16:46404717-46404718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs9635616	chr16:46404718-46404719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs28871272	chr16:46404720-46404721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs12102742	chr16:46404721-46404722	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs12102335	chr16:46404722-46404723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs55955866	chr16:46404725-46404726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs28843189	chr16:46404726-46404727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs28895414	chr16:46404727-46404728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs56145922	chr16:46404728-46404729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs4966501	chr16:46404730-46404731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs28791830	chr16:46404731-46404732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs28890907	chr16:46404732-46404733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs61536627	chr16:46404733-46404734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs28869796	chr16:46404735-46404736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138385857	chr16:46404736-46404737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs4513125	chr16:46404738-46404739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs60712253	chr16:46404740-46404741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12102744	chr16:46404741-46404742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs9746684	chr16:46404743-46404744	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149255359	chr16:46404744-46404745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs4966502	chr16:46404745-46404746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs61216605	chr16:46404746-46404747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs55916720	chr16:46404747-46404748	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs28787727	chr16:46404751-46404752	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs56057802	chr16:46404752-46404753	Weak transcription ZNF genes & repeats	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:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:46403800-46404800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:46403800-46404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:46403800-46404800	Weak transcription	Aorta	Aorta
6	chr16:46403800-46404800	Weak transcription	Esophagus	oesophagus
7	chr16:46403800-46404800	Weak transcription	Lung	lung
8	chr16:46404000-46404800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:46404000-46404800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:46404000-46404800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:46404000-46404800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:46404000-46404800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:46404000-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:46404000-46404800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:46404000-46404800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:46404000-46404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:46404000-46404800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:46404000-46404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:46404000-46404800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:46404000-46404800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:46404000-46404800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr16:46404000-46404800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr16:46404000-46404800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:46404000-46404800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:46404000-46404800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:46404000-46404800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:46404000-46404800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:46404000-46404800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:46404000-46404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:46404000-46404800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:46404000-46404800	Weak transcription	Primary B cells from cord blood	blood
32	chr16:46404000-46404800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr16:46404000-46404800	Weak transcription	Primary T cells from cord blood	blood
34	chr16:46404000-46404800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr16:46404000-46404800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:46404000-46404800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:46404000-46404800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:46404000-46404800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr16:46404000-46404800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:46404000-46404800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:46404000-46404800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr16:46404000-46404800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:46404000-46404800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:46404000-46404800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr16:46404000-46404800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:46404000-46404800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:46404000-46404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr16:46404000-46404800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr16:46404000-46404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:46404000-46404800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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