Variant report

Variant	nsv1020330
Chromosome Location	chr6:70179593-70223307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LMBRD1-2	chr6:70184816-70184932	FPKM1_group_27728_transcript_1
2	lnc-LMBRD1-2	chr6:70184678-70184917	NONHSAT113420
3	lnc-LMBRD1-2	chr6:70186058-70186174	NONHSAT113420
4	lnc-LMBRD1-2	chr6:70184678-70184917	FPKM1_group_27728_transcript_1

Extended variants
information (count: 108 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539407913	chr6:70182206-70182207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190420657	chr6:70182214-70182215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147743163	chr6:70182237-70182238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9454770	chr6:70182280-70182281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573340690	chr6:70182301-70182302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537656356	chr6:70182317-70182318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572928742	chr6:70182330-70182331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556092088	chr6:70182370-70182371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545279536	chr6:70182382-70182383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142662234	chr6:70182407-70182408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150291438	chr6:70182422-70182423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533378856	chr6:70182435-70182436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111947058	chr6:70182454-70182455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137876679	chr6:70182455-70182456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149462468	chr6:70182456-70182457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562349405	chr6:70182498-70182499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9354847	chr6:70182518-70182519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574663023	chr6:70182529-70182530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10214499	chr6:70182534-70182535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10455686	chr6:70182542-70182543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182966583	chr6:70182556-70182557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572183920	chr6:70182568-70182569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370998011	chr6:70182576-70182577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534783214	chr6:70184688-70184689	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs114289885	chr6:70184696-70184697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs9454771	chr6:70184743-70184744	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537268946	chr6:70184754-70184755	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs551562988	chr6:70184760-70184761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs138575634	chr6:70184764-70184765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs570693173	chr6:70184865-70184866	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs182343933	chr6:70184873-70184874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs547675811	chr6:70184879-70184880	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs141665848	chr6:70184880-70184881	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs572818475	chr6:70184883-70184884	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs2104675	chr6:70184893-70184894	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76196352	chr6:70184901-70184902	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs573500783	chr6:70186071-70186072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs585831	chr6:70186093-70186094	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556130939	chr6:70186100-70186101	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs377744243	chr6:70186106-70186107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs575687892	chr6:70186108-70186109	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs544634110	chr6:70186147-70186148	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs184673521	chr6:70186151-70186152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs149015350	chr6:70186155-70186156	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs111719491	chr6:70190020-70190021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540123788	chr6:70190035-70190036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs514510	chr6:70190038-70190039	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs9454774	chr6:70190041-70190042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs144469012	chr6:70190082-70190083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551630255	chr6:70190100-70190101	ZNF genes & repeats	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70182200-70182600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:70190000-70190200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr6:70205200-70205400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr6:70205400-70205600	Active TSS	HUES6 Cell Line	embryonic stem cell

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