Variant report

Variant	esv8943
Chromosome Location	chr16:46416819-46427174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46419232..46419882-chr2:89838516..89839016,2	MCF-7	breast:

Extended variants
information (count: 2164 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2164 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113848932	chr16:46416819-46416820	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs4493234	chr16:46416821-46416822	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs55832199	chr16:46416822-46416823	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs7200782	chr16:46416824-46416825	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs4967304	chr16:46416830-46416831	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs4332897	chr16:46416832-46416833	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs61604629	chr16:46416839-46416840	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs7200792	chr16:46416845-46416846	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs4967305	chr16:46416848-46416849	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs4640364	chr16:46416855-46416856	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs7193775	chr16:46416860-46416861	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs6598694	chr16:46416863-46416864	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs55671143	chr16:46416864-46416865	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs60015074	chr16:46416867-46416868	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs55945455	chr16:46416870-46416871	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs6598695	chr16:46416878-46416879	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs56330513	chr16:46416888-46416889	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs4967306	chr16:46416890-46416891	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs4402732	chr16:46416913-46416914	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs55829729	chr16:46416914-46416915	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs58408234	chr16:46416928-46416929	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs148957571	chr16:46416951-46416952	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs55993207	chr16:46416953-46416954	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs7500221	chr16:46416975-46416976	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs58716401	chr16:46416981-46416982	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs569368665	chr16:46416983-46416984	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs4967307	chr16:46416987-46416988	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs4967308	chr16:46416996-46416997	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs566821690	chr16:46416997-46416998	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs4967309	chr16:46417002-46417003	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs58031205	chr16:46417006-46417007	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs57499132	chr16:46417011-46417012	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs4103056	chr16:46417017-46417018	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs59386224	chr16:46417023-46417024	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs148113020	chr16:46417030-46417031	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs58072065	chr16:46417041-46417042	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs60083538	chr16:46417050-46417051	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs56965021	chr16:46417056-46417057	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs28801435	chr16:46417057-46417058	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs7198833	chr16:46417066-46417067	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs4294972	chr16:46417069-46417070	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs61065811	chr16:46417071-46417072	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs138220457	chr16:46417072-46417073	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs58005088	chr16:46417079-46417080	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs4467245	chr16:46417085-46417086	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs533973336	chr16:46417087-46417088	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs55794179	chr16:46417088-46417089	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs558656469	chr16:46417089-46417090	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs577140416	chr16:46417090-46417091	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs4603737	chr16:46417093-46417094	ZNF genes & repeats Flanking Bivalent TSS/Enh	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:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46417600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
2	chr16:46404800-46418800	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr16:46404800-46421600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr16:46413600-46417600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr16:46413600-46417800	ZNF genes & repeats	HMEC	breast
7	chr16:46415200-46417800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:46415200-46418600	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr16:46415200-46421600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr16:46416600-46417400	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr16:46416600-46417400	ZNF genes & repeats	Fetal Brain Female	brain
13	chr16:46416800-46417400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:46416800-46417400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:46416800-46417400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:46416800-46417400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:46416800-46417400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:46416800-46417400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:46416800-46417400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr16:46416800-46417400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr16:46416800-46417400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr16:46416800-46417400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
23	chr16:46416800-46417400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:46416800-46417400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chr16:46416800-46417400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:46416800-46417400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
27	chr16:46416800-46417400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:46416800-46417400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr16:46416800-46417400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr16:46416800-46417400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:46416800-46417400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:46416800-46417400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:46416800-46417400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:46416800-46417400	ZNF genes & repeats	Brain Angular Gyrus	brain
35	chr16:46416800-46417400	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr16:46416800-46417400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr16:46416800-46417400	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr16:46416800-46417400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:46416800-46417400	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr16:46416800-46417400	ZNF genes & repeats	Colonic Mucosa	Colon
41	chr16:46416800-46417400	ZNF genes & repeats	Esophagus	oesophagus
42	chr16:46416800-46417400	ZNF genes & repeats	Fetal Kidney	kidney
43	chr16:46416800-46417400	ZNF genes & repeats	Fetal Lung	lung
44	chr16:46416800-46417400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr16:46416800-46417400	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr16:46416800-46417400	ZNF genes & repeats	Placenta	Placenta
47	chr16:46416800-46417400	ZNF genes & repeats	Fetal Stomach	stomach
48	chr16:46416800-46417400	ZNF genes & repeats	Fetal Thymus	thymus
49	chr16:46416800-46417400	ZNF genes & repeats	Lung	lung
50	chr16:46416800-46417400	ZNF genes & repeats	Pancreas	Pancrea

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