Variant report

Variant	nsv517304
Chromosome Location	chr6:69688165-69690567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69676667..69679537-chr6:69686722..69688400,2	K562	blood:
2	chr6:69688539..69691215-chr6:69691625..69694173,2	K562	blood:
3	chr6:69683147..69685406-chr6:69688911..69691251,2	K562	blood:
4	chr6:69676667..69679065-chr6:69686722..69689222,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3798984	chr6:69688165-69688166	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115304827	chr6:69688169-69688170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530532890	chr6:69688204-69688205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80302468	chr6:69688232-69688233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66743885	chr6:69688240-69688241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71702869	chr6:69688241-69688242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550219200	chr6:69688242-69688243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147870737	chr6:69688243-69688244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3839458	chr6:69688246-69688247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111600414	chr6:69688272-69688273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570113695	chr6:69688365-69688366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182028844	chr6:69688381-69688382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142640312	chr6:69688403-69688404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566638964	chr6:69688481-69688482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535667069	chr6:69688494-69688495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146502163	chr6:69688501-69688502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575356595	chr6:69688513-69688514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537546061	chr6:69688543-69688544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557487888	chr6:69688556-69688557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573943289	chr6:69688585-69688586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35230563	chr6:69688590-69688591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556594646	chr6:69688638-69688639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546210308	chr6:69688681-69688682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560025398	chr6:69688703-69688704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60159159	chr6:69688754-69688755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78645555	chr6:69688781-69688782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542472063	chr6:69688842-69688843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139980027	chr6:69688843-69688844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544646650	chr6:69688847-69688848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556594086	chr6:69688947-69688948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139164262	chr6:69688958-69688959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35686189	chr6:69689035-69689036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397887081	chr6:69689036-69689037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372827766	chr6:69689037-69689038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542320851	chr6:69689053-69689054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117166007	chr6:69689097-69689098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560340038	chr6:69689201-69689202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187112876	chr6:69689203-69689204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368800866	chr6:69689242-69689243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546166524	chr6:69689254-69689255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566434767	chr6:69689281-69689282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371890940	chr6:69689285-69689286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529184767	chr6:69689292-69689293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572063486	chr6:69689328-69689329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189648709	chr6:69689339-69689340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541176272	chr6:69689390-69689391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538031001	chr6:69689397-69689398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143558733	chr6:69689423-69689424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528312579	chr6:69689435-69689436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570938836	chr6:69689496-69689497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Prostate cancer	16573809	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
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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69685000-69700000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:69685400-69700400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:69685800-69758800	Weak transcription	Fetal Brain Male	brain
4	chr6:69686000-69695400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:69686000-69700000	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:69686000-69700400	Weak transcription	Brain Anterior Caudate	brain
7	chr6:69686000-69700600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:69686200-69695200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:69686200-69703400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:69686600-69700200	Weak transcription	Brain Substantia Nigra	brain
11	chr6:69686800-69706200	Weak transcription	Fetal Lung	lung
12	chr6:69687600-69688400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:69687800-69700400	Weak transcription	Brain Germinal Matrix	brain
14	chr6:69688200-69721200	Weak transcription	Left Ventricle	heart
15	chr6:69688400-69693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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