Variant report

Variant	nsv1020740
Chromosome Location	chr6:70189036-70223307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111719491	chr6:70190020-70190021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs540123788	chr6:70190035-70190036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs514510	chr6:70190038-70190039	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs9454774	chr6:70190041-70190042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144469012	chr6:70190082-70190083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551630255	chr6:70190100-70190101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555486727	chr6:70190116-70190117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575648643	chr6:70190117-70190118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185824030	chr6:70190141-70190142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564289619	chr6:70190150-70190151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532985977	chr6:70190153-70190154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs540133465	chr6:70190157-70190158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2757769	chr6:70190161-70190162	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12190241	chr6:70190162-70190163	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548914112	chr6:70190163-70190164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs568779883	chr6:70190177-70190178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2573010	chr6:70205207-70205208	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146795943	chr6:70205226-70205227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs550363965	chr6:70205243-70205244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570224583	chr6:70205264-70205265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs148514380	chr6:70205271-70205272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142854727	chr6:70205274-70205275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs151063223	chr6:70205282-70205283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558487053	chr6:70205285-70205286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs375222284	chr6:70205288-70205289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555050756	chr6:70205292-70205293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376214626	chr6:70205300-70205301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556030916	chr6:70205306-70205307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563528913	chr6:70205311-70205312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs141041087	chr6:70205313-70205314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545735581	chr6:70205315-70205316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs146847384	chr6:70205317-70205318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78241565	chr6:70205318-70205319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541435205	chr6:70205330-70205331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs561594739	chr6:70205331-70205332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs530650959	chr6:70205350-70205351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550083329	chr6:70205353-70205354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570264708	chr6:70205357-70205358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532845491	chr6:70205358-70205359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113443845	chr6:70205385-70205386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552948528	chr6:70205403-70205404	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566377242	chr6:70205408-70205409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534973204	chr6:70205413-70205414	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113992661	chr6:70205426-70205427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575568107	chr6:70205427-70205428	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568442773	chr6:70205436-70205437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs6455318	chr6:70205437-70205438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs556871699	chr6:70205456-70205457	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577014721	chr6:70205459-70205460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545596780	chr6:70205460-70205461	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Multiple myeloma	17550852	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70190000-70190200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr6:70205200-70205400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr6:70205400-70205600	Active TSS	HUES6 Cell Line	embryonic stem cell

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