Variant report

Variant	esv3365673
Chromosome Location	chr16:46394368-46395362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 659 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:659 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4967796	chr16:46394369-46394370	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs4967797	chr16:46394370-46394371	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs10445179	chr16:46394374-46394375	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs56238177	chr16:46394375-46394376	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs145155561	chr16:46394376-46394377	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs4541233	chr16:46394378-46394379	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs4966998	chr16:46394386-46394387	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs143276322	chr16:46394387-46394388	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs28872516	chr16:46394389-46394390	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs28848587	chr16:46394390-46394391	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs13337773	chr16:46394391-46394392	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs58184810	chr16:46394392-46394393	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs4625746	chr16:46394393-46394394	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs7193782	chr16:46394394-46394395	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs28852407	chr16:46394395-46394396	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs28799367	chr16:46394396-46394397	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs4967798	chr16:46394400-46394401	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs4966999	chr16:46394401-46394402	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs58404665	chr16:46394402-46394403	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs28805041	chr16:46394404-46394405	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs28859388	chr16:46394406-46394407	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs9745685	chr16:46394407-46394408	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs28826651	chr16:46394409-46394410	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs4315361	chr16:46394410-46394411	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs4967800	chr16:46394412-46394413	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs56012969	chr16:46394414-46394415	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs59863360	chr16:46394417-46394418	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs28753099	chr16:46394418-46394419	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs4514700	chr16:46394419-46394420	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs8056531	chr16:46394422-46394423	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs4344769	chr16:46394424-46394425	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs9673435	chr16:46394426-46394427	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs28837713	chr16:46394427-46394428	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs58058768	chr16:46394428-46394429	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs4009078	chr16:46394429-46394430	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs28773852	chr16:46394430-46394431	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs28877905	chr16:46394431-46394432	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs28789758	chr16:46394432-46394433	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs28759699	chr16:46394434-46394435	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs13331909	chr16:46394437-46394438	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs59494598	chr16:46394438-46394439	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs8056540	chr16:46394439-46394440	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs4426369	chr16:46394440-46394441	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs9746656	chr16:46394443-46394444	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs7190607	chr16:46394444-46394445	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs28846140	chr16:46394447-46394448	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs4505362	chr16:46394448-46394449	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs9746377	chr16:46394450-46394451	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs28813384	chr16:46394451-46394452	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs4009077	chr16:46394454-46394455	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:135 , 50 per page) page: 1 2 3

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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