Variant report

Variant	esv3415649
Chromosome Location	chr6:70176280-70201911
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	chr6:70184678-70184917	NONHSAT113420
2	lnc-LMBRD1-2	chr6:70186058-70186174	NONHSAT113420
3	lnc-LMBRD1-2	chr6:70184678-70184917	FPKM1_group_27728_transcript_1
4	lnc-LMBRD1-2	chr6:70184816-70184932	FPKM1_group_27728_transcript_1

Extended variants
information (count: 130 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375161372	chr6:70176346-70176347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115937013	chr6:70176381-70176382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140035587	chr6:70176391-70176392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149454472	chr6:70176420-70176421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559344699	chr6:70176428-70176429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528111926	chr6:70176490-70176491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548270295	chr6:70176509-70176510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568179823	chr6:70176530-70176531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9354846	chr6:70176550-70176551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367648841	chr6:70176564-70176565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550392311	chr6:70176570-70176571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56880395	chr6:70176573-70176574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140377112	chr6:70176619-70176620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186410291	chr6:70176632-70176633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144277197	chr6:70176660-70176661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78890359	chr6:70176671-70176672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563369009	chr6:70176673-70176674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554745184	chr6:70176727-70176728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574925300	chr6:70176745-70176746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374518767	chr6:70176752-70176753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565342964	chr6:70176775-70176776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563455787	chr6:70176782-70176783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73472647	chr6:70176801-70176802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546092643	chr6:70176851-70176852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559698216	chr6:70176856-70176857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190309522	chr6:70176864-70176865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541835351	chr6:70176871-70176872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2094596	chr6:70176916-70176917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530589517	chr6:70176934-70176935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148444389	chr6:70176954-70176955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13202718	chr6:70176978-70176979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532585788	chr6:70177013-70177014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369602937	chr6:70177015-70177016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370218822	chr6:70177023-70177024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552437637	chr6:70177051-70177052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566061576	chr6:70177100-70177101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182125261	chr6:70177115-70177116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186805687	chr6:70177116-70177117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13202865	chr6:70177124-70177125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537504679	chr6:70177130-70177131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs118128631	chr6:70177131-70177132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560879976	chr6:70177136-70177137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528245640	chr6:70177137-70177138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546406664	chr6:70177148-70177149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573220199	chr6:70177161-70177162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190007062	chr6:70177191-70177192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558929608	chr6:70177198-70177199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530448468	chr6:70177199-70177200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544263641	chr6:70177211-70177212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374921170	chr6:70177213-70177214	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70175800-70177200	Enhancers	Brain Germinal Matrix	brain
2	chr6:70177000-70177200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:70177000-70177400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:70182200-70182600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:70190000-70190200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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