Variant report

Variant	esv6229
Chromosome Location	chr16:46417141-46417320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61173410	chr16:46417142-46417143	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs61508451	chr16:46417149-46417150	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs59227086	chr16:46417151-46417152	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs28873179	chr16:46417153-46417154	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs61215931	chr16:46417155-46417156	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs2128483	chr16:46417157-46417158	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs545814204	chr16:46417165-46417166	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs58852994	chr16:46417166-46417167	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs61038344	chr16:46417167-46417168	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs563950387	chr16:46417168-46417169	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs57850819	chr16:46417169-46417170	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs60126948	chr16:46417175-46417176	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs9935762	chr16:46417176-46417177	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs28843526	chr16:46417184-46417185	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs28869581	chr16:46417186-46417187	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs57230975	chr16:46417191-46417192	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs61015691	chr16:46417192-46417193	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs12599123	chr16:46417194-46417195	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs61632939	chr16:46417201-46417202	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs373775240	chr16:46417205-46417206	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs59013588	chr16:46417206-46417207	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs374716588	chr16:46417207-46417208	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs61515469	chr16:46417208-46417209	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs59610638	chr16:46417209-46417210	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs60933662	chr16:46417210-46417211	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs531305073	chr16:46417213-46417214	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs369033922	chr16:46417214-46417215	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs201398036	chr16:46417216-46417217	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs60999795	chr16:46417218-46417219	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs28889326	chr16:46417225-46417226	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs373902532	chr16:46417226-46417227	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs373349149	chr16:46417230-46417231	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs6598696	chr16:46417233-46417234	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs56302308	chr16:46417234-46417235	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs56289469	chr16:46417235-46417236	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs58182179	chr16:46417243-46417244	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs58638205	chr16:46417244-46417245	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs60712621	chr16:46417245-46417246	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs59776267	chr16:46417250-46417251	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs55941364	chr16:46417253-46417254	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs55927321	chr16:46417271-46417272	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs75710234	chr16:46417274-46417275	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs55864405	chr16:46417275-46417276	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs6598697	chr16:46417280-46417281	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs56134381	chr16:46417283-46417284	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs55890344	chr16:46417291-46417292	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs56188183	chr16:46417295-46417296	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs112770556	chr16:46417296-46417297	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs57384716	chr16:46417301-46417302	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs57094695	chr16:46417307-46417308	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:123 , 50 per page) page: 1 2 3

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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