Variant report

Variant	esv3388320
Chromosome Location	chr16:46395365-46408706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5624 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5624 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4499260	chr16:46395365-46395366	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4273198	chr16:46395366-46395367	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4419215	chr16:46395367-46395368	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28791827	chr16:46395368-46395369	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28831409	chr16:46395371-46395372	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28889030	chr16:46395372-46395373	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28790879	chr16:46395373-46395374	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4359613	chr16:46395374-46395375	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4567907	chr16:46395377-46395378	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28817972	chr16:46395378-46395379	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8062302	chr16:46395381-46395382	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4359614	chr16:46395382-46395383	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8055420	chr16:46395383-46395384	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77742031	chr16:46395384-46395385	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60347980	chr16:46395385-46395386	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28799035	chr16:46395388-46395389	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28766905	chr16:46395389-46395390	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4332898	chr16:46395391-46395392	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7197060	chr16:46395392-46395393	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4249667	chr16:46395393-46395394	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4270324	chr16:46395394-46395395	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4359615	chr16:46395395-46395396	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4375830	chr16:46395397-46395398	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4375831	chr16:46395398-46395399	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28814381	chr16:46395399-46395400	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4246406	chr16:46395402-46395403	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs79921176	chr16:46395403-46395404	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs55845261	chr16:46395405-46395406	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs28850027	chr16:46395406-46395407	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs11866766	chr16:46395407-46395408	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4966848	chr16:46395408-46395409	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs58048761	chr16:46395410-46395411	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs76538070	chr16:46395411-46395412	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs28836269	chr16:46395412-46395413	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs28895289	chr16:46395413-46395414	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4967832	chr16:46395416-46395417	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78343885	chr16:46395418-46395419	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs4966849	chr16:46395419-46395420	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7197225	chr16:46395420-46395421	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs4966850	chr16:46395422-46395423	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs28820270	chr16:46395423-46395424	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs28787618	chr16:46395424-46395425	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs28853962	chr16:46395425-46395426	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs4103639	chr16:46395426-46395427	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28806770	chr16:46395427-46395428	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs28798711	chr16:46395428-46395429	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs28814591	chr16:46395429-46395430	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs9806964	chr16:46395430-46395431	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs28793086	chr16:46395433-46395434	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs4967833	chr16:46395434-46395435	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	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:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

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	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
30	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
33	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
34	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
38	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
39	chr16:46388200-46396800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
43	chr16:46388400-46395600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr16:46388400-46395600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
45	chr16:46388400-46395600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
46	chr16:46388400-46395600	ZNF genes & repeats	Thymus	Thymus
47	chr16:46388400-46397000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:46388400-46397000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:46388400-46397000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr16:46388400-46397000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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