Variant report

Variant	esv3734
Chromosome Location	chr16:46398845-46419471
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: 6022 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:6022 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9674004	chr16:46398845-46398846	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs28852705	chr16:46398846-46398847	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs60844190	chr16:46398850-46398851	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs28783695	chr16:46398857-46398858	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs9746416	chr16:46398858-46398859	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs9927447	chr16:46398864-46398865	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs28857485	chr16:46398865-46398866	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs8046958	chr16:46398867-46398868	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs4966952	chr16:46398875-46398876	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs373931131	chr16:46398879-46398880	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs4570870	chr16:46398881-46398882	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs4569306	chr16:46398889-46398890	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs9674137	chr16:46398890-46398891	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs28865573	chr16:46398901-46398902	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs28819088	chr16:46398907-46398908	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs4966954	chr16:46398913-46398914	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs6598595	chr16:46398916-46398917	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs28836564	chr16:46398928-46398929	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs28881288	chr16:46398941-46398942	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs9922761	chr16:46398942-46398943	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs587702019	chr16:46398948-46398949	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs28896274	chr16:46398950-46398951	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs61395804	chr16:46398956-46398957	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs9936697	chr16:46398959-46398960	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs60816852	chr16:46398967-46398968	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs59636453	chr16:46398977-46398978	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs9934597	chr16:46398979-46398980	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs58631414	chr16:46398990-46398991	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs28816138	chr16:46398992-46398993	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs28430404	chr16:46399014-46399015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3954243	chr16:46399050-46399051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74216375	chr16:46399053-46399054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57628560	chr16:46399054-46399055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376873936	chr16:46399059-46399060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28803312	chr16:46399063-46399064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76660081	chr16:46399076-46399077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112755377	chr16:46399085-46399086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9936794	chr16:46399086-46399087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58106937	chr16:46399100-46399101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11865375	chr16:46399109-46399110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9927691	chr16:46399119-46399120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78323435	chr16:46399122-46399123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77271504	chr16:46399131-46399132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78857471	chr16:46399141-46399142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75597556	chr16:46399152-46399153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587681953	chr16:46399156-46399157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587754944	chr16:46399157-46399158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4966955	chr16:46399192-46399193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9934760	chr16:46399195-46399196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11865384	chr16:46399199-46399200	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:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

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	chr16:46398200-46399200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:46398200-46399200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:46398200-46399200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr16:46398200-46399200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr16:46398200-46399200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:46398200-46399200	ZNF genes & repeats	K562	blood
13	chr16:46398200-46399400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:46398200-46399400	ZNF genes & repeats	Fetal Stomach	stomach
15	chr16:46398200-46401800	ZNF genes & repeats	Dnd41	blood
16	chr16:46398200-46402000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr16:46398200-46402000	ZNF genes & repeats	Fetal Brain Male	brain
18	chr16:46398200-46402000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr16:46398200-46402600	ZNF genes & repeats	Fetal Heart	heart
20	chr16:46398200-46404000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr16:46398200-46404000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:46398200-46404000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr16:46398200-46404000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr16:46398200-46404000	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr16:46398200-46404000	ZNF genes & repeats	Liver	Liver
26	chr16:46398200-46404000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr16:46398200-46404000	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr16:46398200-46404000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
29	chr16:46398200-46404000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr16:46398400-46399000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr16:46398400-46399000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr16:46398400-46399000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:46398400-46399000	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr16:46398400-46399000	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
35	chr16:46398400-46399000	ZNF genes & repeats	Small Intestine	intestine
36	chr16:46398400-46399000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
37	chr16:46398400-46399200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:46398400-46399200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr16:46398400-46399200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr16:46398400-46399200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:46398400-46399200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:46398400-46399200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr16:46398400-46399200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr16:46398400-46399200	ZNF genes & repeats	Fetal Kidney	kidney
45	chr16:46398400-46399200	ZNF genes & repeats	Fetal Lung	lung
46	chr16:46398400-46399200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
47	chr16:46398400-46399200	ZNF genes & repeats	Right Ventricle	heart
48	chr16:46398400-46399200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
49	chr16:46398400-46399200	ZNF genes & repeats	A549	lung
50	chr16:46398400-46399200	ZNF genes & repeats	GM12878-XiMat	blood

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