Variant report

Variant	nsv463168
Chromosome Location	chr6:78317850-78361170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:78356313..78359113-chr6:78364118..78365918,2	MCF-7	breast:
2	chr4:114314248..114314920-chr6:78343402..78344219,2	MCF-7	breast:
3	chr6:78329435..78332100-chr6:78332327..78334902,2	MCF-7	breast:
4	chr6:78329435..78332100-chr6:78332327..78334902,2	MCF-7	breast:
5	chr6:78357150..78359352-chr6:78388533..78390499,2	K562	blood:
6	chr6:78347135..78348863-chr6:78349405..78351353,2	MCF-7	breast:
7	chr6:78347135..78348863-chr6:78349405..78351353,2	MCF-7	breast:

Extended variants
information (count: 461 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578010489	chr6:78327463-78327464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148801821	chr6:78327476-78327477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113840986	chr6:78327483-78327484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538907531	chr6:78327501-78327502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118000194	chr6:78327504-78327505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189962193	chr6:78327517-78327518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182465469	chr6:78327522-78327523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566953673	chr6:78327573-78327574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568340448	chr6:78327583-78327584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1458416	chr6:78327600-78327601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78973167	chr6:78333822-78333823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540826307	chr6:78333837-78333838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543569318	chr6:78333839-78333840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564976086	chr6:78333850-78333851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532193620	chr6:78333859-78333860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9448118	chr6:78333860-78333861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573833389	chr6:78333864-78333865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146949375	chr6:78333872-78333873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559689819	chr6:78333903-78333904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577866810	chr6:78333907-78333908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528514205	chr6:78334010-78334011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545078614	chr6:78334051-78334052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565075509	chr6:78334054-78334055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117476522	chr6:78334062-78334063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551103973	chr6:78334148-78334149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567770013	chr6:78334164-78334165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550320616	chr6:78334234-78334235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35087706	chr6:78334235-78334236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397887842	chr6:78334237-78334238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57341753	chr6:78334254-78334255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547022987	chr6:78334269-78334270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565656983	chr6:78334285-78334286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534637998	chr6:78334286-78334287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1458409	chr6:78334302-78334303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375739186	chr6:78334325-78334326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563100673	chr6:78334363-78334364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548115708	chr6:78334369-78334370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111962508	chr6:78334427-78334428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150938043	chr6:78334439-78334440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557080197	chr6:78334481-78334482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565929235	chr6:78334494-78334495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573795282	chr6:78334495-78334496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566422881	chr6:78334501-78334502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552879802	chr6:78334505-78334506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1458410	chr6:78334514-78334515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188869656	chr6:78334567-78334568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577518204	chr6:78334599-78334600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1458411	chr6:78334631-78334632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544418217	chr6:78334641-78334642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561527539	chr6:78334655-78334656	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78327400-78327600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:78333800-78335200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:78333800-78335200	Enhancers	Fetal Lung	lung
4	chr6:78336000-78336200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:78343400-78344200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:78343400-78344400	Enhancers	NH-A	brain
7	chr6:78343600-78344400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:78343800-78344400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:78349400-78350400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:78350400-78353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:78353600-78354400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:78353800-78354400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr6:78353800-78354600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:78353800-78354600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:78353800-78355000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:78353800-78355000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:78354400-78355600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:78354400-78355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:78354600-78355400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:78355000-78362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:78355400-78356000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:78355600-78356000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:78355600-78356200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr6:78355800-78356200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:78356000-78359400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:78356000-78359600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:78356200-78359200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:78356200-78359800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:78358200-78359400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr6:78358600-78359200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:78358600-78359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:78358800-78359000	Enhancers	Fetal Intestine Small	intestine
33	chr6:78358800-78359600	Enhancers	Fetal Heart	heart
34	chr6:78358800-78359800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:78359000-78359800	Weak transcription	Fetal Intestine Small	intestine
36	chr6:78359200-78359400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:78359200-78359400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr6:78359200-78359400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:78359200-78359400	Enhancers	Fetal Kidney	kidney
40	chr6:78359200-78360200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr6:78359200-78360200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:78359200-78360400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr6:78359400-78359600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:78359400-78359600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:78359400-78359600	Flanking Active TSS	HUVEC	blood vessel
46	chr6:78359400-78359800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:78359400-78360200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:78359400-78360200	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr6:78359400-78360200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:78359400-78360200	Active TSS	Primary hematopoietic stem cells	blood

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