Variant report

Variant	nsv514368
Chromosome Location	chr6:69690327-69691439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69682967..69685609-chr6:69690760..69692583,2	K562	blood:
2	chr6:69683147..69685406-chr6:69688911..69691251,2	K562	blood:
3	chr6:69688539..69691215-chr6:69691625..69694173,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185933846	chr6:69690336-69690337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544475477	chr6:69690348-69690349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80241402	chr6:69690351-69690352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34002496	chr6:69690381-69690382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577770145	chr6:69690395-69690396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540000403	chr6:69690467-69690468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560186021	chr6:69690494-69690495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149179810	chr6:69690566-69690567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12665384	chr6:69690567-69690568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs143348274	chr6:69690602-69690603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139310304	chr6:69690613-69690614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9446081	chr6:69690633-69690634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113142253	chr6:69690657-69690658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527476554	chr6:69690666-69690667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546818307	chr6:69690711-69690712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190445348	chr6:69690714-69690715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535508200	chr6:69690722-69690723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143335907	chr6:69690738-69690739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556858945	chr6:69690802-69690803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12665411	chr6:69690824-69690825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184227464	chr6:69690834-69690835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558027636	chr6:69690853-69690854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568234942	chr6:69690901-69690902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577858565	chr6:69690903-69690904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71555397	chr6:69690915-69690916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553614995	chr6:69690932-69690933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147120977	chr6:69690933-69690934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542325484	chr6:69690983-69690984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138642727	chr6:69691004-69691005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576058273	chr6:69691009-69691010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554254231	chr6:69691043-69691044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200695124	chr6:69691075-69691076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188730291	chr6:69691113-69691114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201253780	chr6:69691114-69691115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141171236	chr6:69691196-69691197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572430810	chr6:69691252-69691253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547546106	chr6:69691273-69691274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150744274	chr6:69691288-69691289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139094487	chr6:69691302-69691303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193210351	chr6:69691402-69691403	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:14 , 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	chr6:69687800-69700400	Weak transcription	Brain Germinal Matrix	brain
13	chr6:69688200-69721200	Weak transcription	Left Ventricle	heart
14	chr6:69688400-69693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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