Variant report

Variant	esv4857
Chromosome Location	chr16:46400687-46427079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 7188 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:7188 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4306532	chr16:46400701-46400702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11488954	chr16:46400711-46400712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7499799	chr16:46400713-46400714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11488955	chr16:46400716-46400717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28802400	chr16:46400719-46400720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145655906	chr16:46400734-46400735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76377911	chr16:46400737-46400738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7501103	chr16:46400738-46400739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7499801	chr16:46400742-46400743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4967019	chr16:46400747-46400748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28827487	chr16:46400770-46400771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4126769	chr16:46400772-46400773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9938211	chr16:46400788-46400789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9745760	chr16:46400790-46400791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13330227	chr16:46400806-46400807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9922078	chr16:46400813-46400814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28880128	chr16:46400837-46400838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9745411	chr16:46400839-46400840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7500510	chr16:46400842-46400843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4491527	chr16:46400849-46400850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4260078	chr16:46400850-46400851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28887508	chr16:46400866-46400867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28773849	chr16:46400875-46400876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28775340	chr16:46400901-46400902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8045873	chr16:46400904-46400905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9922170	chr16:46400910-46400911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112892803	chr16:46400911-46400912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138930191	chr16:46400912-46400913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60477558	chr16:46400916-46400917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28803843	chr16:46400919-46400920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12149557	chr16:46400934-46400935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57913908	chr16:46400935-46400936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78590625	chr16:46400944-46400945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28850073	chr16:46400950-46400951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8045895	chr16:46400958-46400959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78494419	chr16:46400969-46400970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9928418	chr16:46400971-46400972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8058854	chr16:46400976-46400977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138345191	chr16:46400986-46400987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9928427	chr16:46400998-46400999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28849785	chr16:46400999-46401000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6598619	chr16:46401009-46401010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28880422	chr16:46401016-46401017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71221504	chr16:46401018-46401019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8058994	chr16:46401019-46401020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9745430	chr16:46401022-46401023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13339236	chr16:46401023-46401024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7498847	chr16:46401028-46401029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9922259	chr16:46401031-46401032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374990894	chr16:46401033-46401034	ZNF genes & repeats Weak transcription	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:1504 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
2	chr16:46389200-46404000	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr16:46389200-46404000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr16:46398000-46404000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr16:46398200-46401800	ZNF genes & repeats	Dnd41	blood
8	chr16:46398200-46402000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr16:46398200-46402000	ZNF genes & repeats	Fetal Brain Male	brain
10	chr16:46398200-46402000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
11	chr16:46398200-46402600	ZNF genes & repeats	Fetal Heart	heart
12	chr16:46398200-46404000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr16:46398200-46404000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:46398200-46404000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr16:46398200-46404000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr16:46398200-46404000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr16:46398200-46404000	ZNF genes & repeats	Liver	Liver
18	chr16:46398200-46404000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr16:46398200-46404000	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr16:46398200-46404000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
21	chr16:46398200-46404000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr16:46398400-46401800	ZNF genes & repeats	HepG2	liver
23	chr16:46398400-46401800	ZNF genes & repeats	HUVEC	blood vessel
24	chr16:46398400-46402000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr16:46398400-46402000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
26	chr16:46398400-46402000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr16:46398400-46402000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr16:46398400-46402000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr16:46398400-46402000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:46398400-46402000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:46398400-46402000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
32	chr16:46398400-46402000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr16:46398400-46404000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr16:46398400-46404000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr16:46398400-46404000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr16:46398400-46404000	ZNF genes & repeats	HMEC	breast
37	chr16:46398600-46401800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr16:46398600-46402000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:46398600-46402000	ZNF genes & repeats	Gastric	stomach
40	chr16:46398600-46402000	ZNF genes & repeats	Left Ventricle	heart
41	chr16:46399000-46401000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:46399000-46401000	Weak transcription	Right Atrium	heart
43	chr16:46399200-46400800	Weak transcription	K562	blood
44	chr16:46399200-46400800	Weak transcription	NHDF-Ad	bronchial
45	chr16:46399200-46400800	Weak transcription	NHEK	skin
46	chr16:46399200-46401000	Weak transcription	NHLF	lung
47	chr16:46399200-46401200	Weak transcription	Right Ventricle	heart
48	chr16:46399800-46402000	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr16:46399800-46402000	ZNF genes & repeats	Colon Smooth Muscle	Colon
50	chr16:46399800-46402000	ZNF genes & repeats	Psoas Muscle	Psoas

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