Variant report

Variant	nsv970302
Chromosome Location	chr6:69650881-69655471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69631911..69634740-chr6:69647956..69650887,2	K562	blood:
2	chr6:69655289..69656964-chr6:69658212..69660418,2	K562	blood:
3	chr6:69648515..69651430-chr6:69656581..69658381,2	K562	blood:
4	chr6:69651490..69654274-chr6:69657804..69660488,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186928417	chr6:69650885-69650886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374134937	chr6:69650923-69650924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531436457	chr6:69650928-69650929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190688669	chr6:69650937-69650938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182911101	chr6:69650982-69650983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369780879	chr6:69651020-69651021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546987478	chr6:69651143-69651144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566844452	chr6:69651220-69651221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576626284	chr6:69651235-69651236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535827759	chr6:69651249-69651250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187208002	chr6:69651260-69651261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74568876	chr6:69651275-69651276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538476667	chr6:69651292-69651293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571918915	chr6:69651318-69651319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558020174	chr6:69651321-69651322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577678554	chr6:69651337-69651338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539916027	chr6:69651369-69651370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372795616	chr6:69651377-69651378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559741618	chr6:69651412-69651413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573331943	chr6:69651418-69651419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1932613	chr6:69651424-69651425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369573796	chr6:69651528-69651529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531505427	chr6:69651555-69651556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9765867	chr6:69651567-69651568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564426610	chr6:69651696-69651697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564895921	chr6:69651710-69651711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554639935	chr6:69651790-69651791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376290360	chr6:69651814-69651815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144561594	chr6:69651815-69651816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9354811	chr6:69651816-69651817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547142730	chr6:69651859-69651860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545912467	chr6:69651874-69651875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566952507	chr6:69651902-69651903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145516282	chr6:69652000-69652001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373224647	chr6:69652001-69652002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375904828	chr6:69652053-69652054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529344147	chr6:69652074-69652075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375337790	chr6:69652131-69652132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569571496	chr6:69652208-69652209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538117320	chr6:69652291-69652292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558348133	chr6:69652307-69652308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73747868	chr6:69652357-69652358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144111928	chr6:69652362-69652363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556267333	chr6:69652374-69652375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573812033	chr6:69652392-69652393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553485219	chr6:69652400-69652401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193275057	chr6:69652423-69652424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542263032	chr6:69652473-69652474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62418266	chr6:69652477-69652478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561644579	chr6:69652504-69652505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69644000-69653600	Weak transcription	Brain Substantia Nigra	brain
2	chr6:69644000-69653800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:69644600-69665800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:69645200-69653600	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:69645200-69661200	Weak transcription	Left Ventricle	heart
6	chr6:69645600-69679000	Weak transcription	Fetal Brain Female	brain
7	chr6:69646000-69685000	Weak transcription	Fetal Lung	lung
8	chr6:69646200-69677200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:69647600-69659200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:69647600-69659200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:69647600-69677800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:69652200-69684600	Weak transcription	Brain Angular Gyrus	brain
13	chr6:69652600-69658000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:69652800-69672800	Weak transcription	Fetal Brain Male	brain
15	chr6:69653600-69654400	Strong transcription	Brain Hippocampus Middle	brain
16	chr6:69653600-69655000	Strong transcription	Brain Substantia Nigra	brain
17	chr6:69653800-69654000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:69653800-69655000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:69654000-69661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:69654400-69677600	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:69655000-69664200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:69655000-69677600	Weak transcription	Brain Substantia Nigra	brain

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