Variant report

Variant	nsv604148
Chromosome Location	chr6:93368951-93396467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:93363497..93365006-chr6:93368725..93371221,2	K562	blood:
2	chr6:93385781..93388055-chr6:93400298..93402260,2	K562	blood:

Extended variants
information (count: 852 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566305876	chr6:93371640-93371641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117758447	chr6:93371666-93371667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554672583	chr6:93371718-93371719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150855322	chr6:93371728-93371729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118095011	chr6:93371763-93371764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35295287	chr6:93371770-93371771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555993443	chr6:93371871-93371872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34816560	chr6:93371890-93371891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34839685	chr6:93371926-93371927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139839509	chr6:93371931-93371932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538962898	chr6:93371966-93371967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187248103	chr6:93372054-93372055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12175910	chr6:93372070-93372071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541096442	chr6:93372084-93372085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560979221	chr6:93372098-93372099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574448569	chr6:93372260-93372261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16870127	chr6:93372310-93372311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563321326	chr6:93372359-93372360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9353937	chr6:93372452-93372453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191769754	chr6:93372459-93372460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535628587	chr6:93372519-93372520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549016568	chr6:93372542-93372543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548243144	chr6:93372543-93372544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147315288	chr6:93372554-93372555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201831855	chr6:93372630-93372631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537194538	chr6:93372631-93372632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550550806	chr6:93372678-93372679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570858407	chr6:93372679-93372680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534621002	chr6:93372687-93372688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201805458	chr6:93372715-93372716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71897753	chr6:93372722-93372723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200613736	chr6:93372725-93372726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538532340	chr6:93372727-93372728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558834141	chr6:93372740-93372741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572110205	chr6:93372763-93372764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79875586	chr6:93372801-93372802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184094034	chr6:93372817-93372818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116210304	chr6:93372861-93372862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188478153	chr6:93372917-93372918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149305129	chr6:93372977-93372978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563123181	chr6:93373007-93373008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141013941	chr6:93373013-93373014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192794723	chr6:93373055-93373056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560011356	chr6:93373090-93373091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528622319	chr6:93373150-93373151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149864339	chr6:93373151-93373152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562752119	chr6:93373154-93373155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551015561	chr6:93373182-93373183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9445010	chr6:93373196-93373197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145802505	chr6:93373211-93373212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93371600-93372200	Enhancers	Fetal Heart	heart
2	chr6:93372200-93376000	Weak transcription	Fetal Heart	heart
3	chr6:93376000-93379000	Enhancers	Fetal Heart	heart
4	chr6:93377000-93378000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:93377600-93378000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:93377600-93378000	Active TSS	Right Atrium	heart
7	chr6:93378000-93383400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:93379800-93381400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr6:93380000-93380600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:93380200-93382600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:93380600-93381200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr6:93381200-93382200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr6:93381400-93381800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr6:93381800-93383000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:93383400-93383600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:93383600-93384400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:93383600-93384600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:93384400-93385000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:93389200-93389800	Enhancers	Fetal Heart	heart
20	chr6:93389800-93392200	Weak transcription	Fetal Heart	heart
21	chr6:93392200-93394600	Enhancers	Fetal Heart	heart
22	chr6:93392600-93394400	Enhancers	Fetal Stomach	stomach
23	chr6:93393000-93393600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:93394600-93400200	Weak transcription	Fetal Heart	heart
25	chr6:93396400-93399000	Enhancers	Primary monocytes fromperipheralblood	blood

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