Variant report

Variant	nsv603350
Chromosome Location	chr6:63066240-63152724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1661 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1661 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2814654	chr6:63066240-63066241	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192106054	chr6:63066253-63066254	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554147653	chr6:63066312-63066313	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569935179	chr6:63066315-63066316	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530966753	chr6:63066389-63066390	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373847688	chr6:63066421-63066422	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141154611	chr6:63066443-63066444	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370614324	chr6:63066447-63066448	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59304652	chr6:63066469-63066470	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2842811	chr6:63066471-63066472	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532204949	chr6:63066473-63066474	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545917656	chr6:63066475-63066476	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565488912	chr6:63066483-63066484	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532847406	chr6:63066491-63066492	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547725179	chr6:63066493-63066494	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372655901	chr6:63066494-63066495	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565698033	chr6:63066495-63066496	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373469554	chr6:63066507-63066508	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183832315	chr6:63066527-63066528	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147939188	chr6:63066530-63066531	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78627596	chr6:63066532-63066533	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537288701	chr6:63066558-63066559	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558706598	chr6:63066565-63066566	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188601737	chr6:63066571-63066572	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565899380	chr6:63066625-63066626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180735098	chr6:63066705-63066706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367738882	chr6:63066742-63066743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2639411	chr6:63066744-63066745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572124207	chr6:63066758-63066759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542598698	chr6:63066777-63066778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554674498	chr6:63066797-63066798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140108028	chr6:63066825-63066826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184582672	chr6:63066838-63066839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565476223	chr6:63066850-63066851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532568557	chr6:63066914-63066915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115821021	chr6:63066941-63066942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114445969	chr6:63066956-63066957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529742748	chr6:63066988-63066989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548205291	chr6:63067026-63067027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569806805	chr6:63067054-63067055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553575215	chr6:63067090-63067091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530638723	chr6:63067091-63067092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370276204	chr6:63067117-63067118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571883506	chr6:63067154-63067155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150023697	chr6:63067166-63067167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116557686	chr6:63067169-63067170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553267749	chr6:63067171-63067172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567994886	chr6:63067220-63067221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369160450	chr6:63067251-63067252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554535656	chr6:63067256-63067257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63064800-63067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:63066200-63066600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:63066200-63066600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:63066600-63081600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:63067600-63067800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:63067600-63067800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:63067800-63068200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:63067800-63068200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:63067800-63068200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:63067800-63068200	Enhancers	Fetal Kidney	kidney
11	chr6:63068000-63068200	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:63068200-63068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:63068200-63068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:63068400-63076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:63068800-63076600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:63076200-63077600	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:63076200-63077800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:63076400-63077000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:63076400-63077600	Enhancers	Primary B cells from cord blood	blood
20	chr6:63076400-63078400	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:63076600-63079000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:63077000-63078400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:63077600-63078000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:63077600-63078000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr6:63077600-63078000	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:63077800-63078200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr6:63078000-63078800	Enhancers	Primary B cells from cord blood	blood
28	chr6:63078000-63079200	Enhancers	Primary hematopoietic stem cells	blood
29	chr6:63078200-63079000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:63078400-63078600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:63078600-63081400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:63079000-63083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:63079200-63079600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:63079600-63080000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr6:63080000-63081800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:63081200-63082000	Enhancers	Primary B cells from peripheral blood	blood
37	chr6:63081200-63082000	Enhancers	Fetal Brain Male	brain
38	chr6:63081200-63083400	Enhancers	Primary B cells from cord blood	blood
39	chr6:63081400-63081600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:63081400-63082000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:63081400-63082000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:63081400-63082800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:63081400-63084000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:63081600-63081800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:63081600-63081800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:63081600-63082000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:63081600-63082000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:63081800-63082000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:63081800-63082200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:63081800-63082200	Enhancers	Primary hematopoietic stem cells	blood

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