Variant report

Variant	esv3349527
Chromosome Location	chr16:46394481-46398248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1618 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1618 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8049806	chr16:46394481-46394482	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs28782296	chr16:46394482-46394483	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs56853282	chr16:46394485-46394486	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs9934200	chr16:46394486-46394487	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs56144747	chr16:46394487-46394488	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs28795723	chr16:46394490-46394491	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs12149596	chr16:46394491-46394492	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs28861124	chr16:46394493-46394494	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs4966834	chr16:46394494-46394495	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs4505364	chr16:46394495-46394496	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs4967804	chr16:46394499-46394500	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs28795970	chr16:46394500-46394501	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs4635370	chr16:46394502-46394503	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs9745565	chr16:46394503-46394504	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs57761952	chr16:46394504-46394505	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs28805127	chr16:46394505-46394506	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs9673441	chr16:46394506-46394507	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs57390440	chr16:46394508-46394509	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs28791914	chr16:46394509-46394510	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs60411969	chr16:46394510-46394511	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs61667618	chr16:46394512-46394513	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs28835926	chr16:46394513-46394514	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs7198477	chr16:46394515-46394516	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs28862435	chr16:46394516-46394517	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs4967805	chr16:46394518-46394519	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs8049758	chr16:46394520-46394521	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs28775317	chr16:46394522-46394523	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs4625744	chr16:46394524-46394525	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs4967806	chr16:46394525-46394526	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs28808403	chr16:46394526-46394527	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs28787092	chr16:46394529-46394530	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs4296284	chr16:46394533-46394534	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs28831539	chr16:46394535-46394536	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs28803479	chr16:46394536-46394537	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs28859935	chr16:46394538-46394539	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs28874878	chr16:46394539-46394540	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs59622371	chr16:46394541-46394542	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs28841624	chr16:46394543-46394544	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs4360960	chr16:46394544-46394545	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs28840084	chr16:46394546-46394547	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs28756369	chr16:46394548-46394549	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs28880031	chr16:46394549-46394550	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs9746390	chr16:46394550-46394551	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs28808399	chr16:46394551-46394552	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs7404261	chr16:46394552-46394553	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs9746392	chr16:46394553-46394554	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs28829980	chr16:46394556-46394557	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs28894821	chr16:46394557-46394558	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs13336181	chr16:46394558-46394559	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs6598807	chr16:46394561-46394562	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:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
13	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
15	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
16	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
17	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
18	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
19	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
24	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
27	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
28	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr16:46387600-46394600	ZNF genes & repeats	A549	lung
30	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
31	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
34	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
35	chr16:46388000-46394600	ZNF genes & repeats	HSMMtube	muscle
36	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
41	chr16:46388200-46396800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
45	chr16:46388400-46395600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr16:46388400-46395600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr16:46388400-46395600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
48	chr16:46388400-46395600	ZNF genes & repeats	Thymus	Thymus
49	chr16:46388400-46397000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:46388400-46397000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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