Variant report

Variant	nsv515733
Chromosome Location	chr6:65824579-65918809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:
2	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:
3	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:
4	chr6:65821523..65823761-chr6:65825584..65828218,2	MCF-7	breast:
5	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:

Extended variants
information (count: 1336 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1336 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544534825	chr6:65826429-65826430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564788014	chr6:65826442-65826443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9294633	chr6:65826457-65826458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182137448	chr6:65826465-65826466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573558259	chr6:65826494-65826495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9294634	chr6:65826547-65826548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs17638691	chr6:65826576-65826577	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548295936	chr6:65826605-65826606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139571260	chr6:65826608-65826609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537221692	chr6:65826609-65826610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9453186	chr6:65826631-65826632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570698182	chr6:65826658-65826659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539454026	chr6:65826688-65826689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553292484	chr6:65826719-65826720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572893947	chr6:65826753-65826754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs5876945	chr6:65826774-65826775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538995444	chr6:65826801-65826802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62407203	chr6:65826802-65826803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560233321	chr6:65826843-65826844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs5007203	chr6:65826860-65826861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186784760	chr6:65826862-65826863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367616560	chr6:65826864-65826865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5007201	chr6:65826865-65826866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564644440	chr6:65826867-65826868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34568141	chr6:65826893-65826894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4547990	chr6:65826900-65826901	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545489746	chr6:65826902-65826903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1321928	chr6:65826904-65826905	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528088814	chr6:65826926-65826927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540712960	chr6:65826932-65826933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558992118	chr6:65826945-65826946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74913990	chr6:65826963-65826964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530747221	chr6:65826970-65826971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554717703	chr6:65827027-65827028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75142832	chr6:65827042-65827043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78955274	chr6:65827044-65827045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550704645	chr6:65827097-65827098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570664955	chr6:65827157-65827158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34275047	chr6:65827173-65827174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539763520	chr6:65827188-65827189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546577139	chr6:65827235-65827236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149685287	chr6:65827282-65827283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535443824	chr6:65827307-65827308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372852141	chr6:65827326-65827327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192589355	chr6:65827398-65827399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184975872	chr6:65827410-65827411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371510043	chr6:65827411-65827412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558288453	chr6:65827446-65827447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578102266	chr6:65827450-65827451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540967960	chr6:65827505-65827506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65826400-65826800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr6:65826800-65827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:65826800-65827200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:65827200-65827400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:65827400-65828200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:65828000-65828600	Enhancers	Fetal Lung	lung
7	chr6:65828200-65828600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:65833200-65833800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:65833400-65833800	Enhancers	Fetal Lung	lung
10	chr6:65833400-65834000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:65833400-65834000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:65833800-65834000	Enhancers	Fetal Stomach	stomach
13	chr6:65833800-65834800	Weak transcription	Fetal Lung	lung
14	chr6:65834600-65835000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:65834800-65835000	Enhancers	Fetal Stomach	stomach
16	chr6:65834800-65836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:65835000-65835200	Enhancers	Fetal Lung	lung
18	chr6:65836400-65836600	Enhancers	Fetal Stomach	stomach
19	chr6:65836600-65837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:65856000-65856600	Enhancers	HUVEC	blood vessel
21	chr6:65857800-65859200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:65859600-65859800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:65860000-65861400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:65861000-65861400	Enhancers	Fetal Lung	lung
25	chr6:65861400-65862600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:65862600-65865200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:65865200-65866800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:65871000-65872200	Enhancers	Fetal Lung	lung
29	chr6:65871000-65872200	Enhancers	Fetal Stomach	stomach
30	chr6:65871600-65872200	Enhancers	HepG2	liver
31	chr6:65871800-65874800	Enhancers	Fetal Brain Male	brain
32	chr6:65872200-65872400	Enhancers	Fetal Brain Female	brain
33	chr6:65872400-65873400	Weak transcription	Fetal Brain Female	brain
34	chr6:65873400-65874400	Enhancers	Fetal Brain Female	brain
35	chr6:65887800-65888200	Active TSS	Aorta	Aorta
36	chr6:65888000-65888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:65896400-65897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:65899600-65900000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:65899800-65901800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:65900000-65900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:65900400-65901800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:65900400-65902000	Enhancers	Brain Germinal Matrix	brain
43	chr6:65900600-65901800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:65900600-65901800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:65900600-65901800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:65900600-65902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:65900600-65902000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:65900800-65901800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:65900800-65901800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:65901200-65902000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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