Variant report

Variant	esv4026
Chromosome Location	chr16:46397519-46430215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46413431..46413941-chr16:46435012..46435522,2	MCF-7	breast:
2	chr16:46419232..46419882-chr2:89838516..89839016,2	MCF-7	breast:
3	chr16:46413428..46413948-chr16:46435017..46435528,2	MCF-7	breast:

Extended variants
information (count: 8609 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:8609 , 50 per page) page: 1 2 3 4 5 6 7 ... 173

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28798507	chr16:46397520-46397521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs56412317	chr16:46397521-46397522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs9922398	chr16:46397523-46397524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs28812249	chr16:46397524-46397525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs56130020	chr16:46397526-46397527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7500868	chr16:46397527-46397528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs9929369	chr16:46397529-46397530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs28880406	chr16:46397532-46397533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs13334844	chr16:46397535-46397536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs28863530	chr16:46397538-46397539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs28786207	chr16:46397543-46397544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs9931448	chr16:46397545-46397546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12103207	chr16:46397548-46397549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs9931449	chr16:46397549-46397550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs56005180	chr16:46397552-46397553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs9931452	chr16:46397554-46397555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs28851202	chr16:46397556-46397557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs71268678	chr16:46397559-46397560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs28885988	chr16:46397569-46397570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs6598577	chr16:46397573-46397574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs9922408	chr16:46397579-46397580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs587686346	chr16:46397581-46397582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs55941342	chr16:46397582-46397583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs9937884	chr16:46397585-46397586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs6598579	chr16:46397586-46397587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4966916	chr16:46397591-46397592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs28805040	chr16:46397601-46397602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371167941	chr16:46397602-46397603	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs56365952	chr16:46397603-46397604	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs12102340	chr16:46397610-46397611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs4616306	chr16:46397612-46397613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62021481	chr16:46397614-46397615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7199184	chr16:46397620-46397621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs7184984	chr16:46397621-46397622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs8060877	chr16:46397622-46397623	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs56043901	chr16:46397624-46397625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs56143424	chr16:46397625-46397626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78784082	chr16:46397629-46397630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77217959	chr16:46397631-46397632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs56174390	chr16:46397632-46397633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78892128	chr16:46397634-46397635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs75509300	chr16:46397635-46397636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs9746164	chr16:46397639-46397640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs28806317	chr16:46397640-46397641	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs7187339	chr16:46397641-46397642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs56865291	chr16:46397643-46397644	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs4474714	chr16:46397644-46397645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs28826010	chr16:46397645-46397646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4588004	chr16:46397647-46397648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs9931541	chr16:46397649-46397650	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:1764 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
3	chr16:46389200-46404000	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr16:46389200-46404000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr16:46397000-46398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:46397000-46398200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:46397000-46398200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:46397000-46398200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:46397000-46398200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:46397000-46398200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:46397000-46398200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:46397000-46398200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:46397000-46398200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:46397000-46398200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:46397000-46398200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:46397000-46398200	Weak transcription	Adipose Nuclei	Adipose
17	chr16:46397000-46398200	Weak transcription	Liver	Liver
18	chr16:46397000-46398200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr16:46397000-46398200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr16:46397000-46398200	Weak transcription	Fetal Brain Male	brain
21	chr16:46397000-46398200	Weak transcription	Fetal Heart	heart
22	chr16:46397000-46398200	Weak transcription	Fetal Intestine Large	intestine
23	chr16:46397000-46398200	Weak transcription	Fetal Stomach	stomach
24	chr16:46397000-46398200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:46397000-46398200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:46397000-46398200	Weak transcription	Dnd41	blood
27	chr16:46397000-46398200	Weak transcription	K562	blood
28	chr16:46397000-46398200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr16:46397000-46398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:46397000-46398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:46397000-46398400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:46397000-46398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:46397000-46398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:46397000-46398400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr16:46397000-46398400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr16:46397000-46398400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr16:46397000-46398400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:46397000-46398400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr16:46397000-46398400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr16:46397000-46398400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:46397000-46398400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr16:46397000-46398400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:46397000-46398400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr16:46397000-46398400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:46397000-46398400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr16:46397000-46398400	Weak transcription	Brain Anterior Caudate	brain
47	chr16:46397000-46398400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:46397000-46398400	Weak transcription	Colon Smooth Muscle	Colon
49	chr16:46397000-46398400	Weak transcription	Fetal Kidney	kidney
50	chr16:46397000-46398400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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