Variant report

Variant	nsv5340
Chromosome Location	chr6:70156159-70200802
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	FPKM1_group_27728_transcript_1
2	lnc-LMBRD1-2	chr6:70186058-70186174	NONHSAT113420
3	lnc-LMBRD1-2	chr6:70184816-70184932	FPKM1_group_27728_transcript_1
4	lnc-LMBRD1-2	chr6:70184678-70184917	NONHSAT113420

Extended variants
information (count: 370 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558382172	chr6:70159872-70159873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138573284	chr6:70159875-70159876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149302409	chr6:70159876-70159877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554595653	chr6:70159898-70159899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574427466	chr6:70159913-70159914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs543540919	chr6:70159933-70159934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144580759	chr6:70159936-70159937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563257848	chr6:70159962-70159963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6931429	chr6:70159964-70159965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs148483375	chr6:70159974-70159975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565566555	chr6:70159980-70159981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543946683	chr6:70159987-70159988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs563515546	chr6:70159992-70159993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs180737944	chr6:70160014-70160015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185116821	chr6:70160015-70160016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs143830338	chr6:70160018-70160019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12213515	chr6:70160022-70160023	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189147636	chr6:70160023-70160024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569817929	chr6:70160038-70160039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538406597	chr6:70160114-70160115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs182096863	chr6:70160129-70160130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558373577	chr6:70160149-70160150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565635014	chr6:70160153-70160154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534947718	chr6:70160175-70160176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187651175	chr6:70160201-70160202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201234818	chr6:70160221-70160222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs191525206	chr6:70160252-70160253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543075683	chr6:70160277-70160278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557050832	chr6:70160307-70160308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs12195151	chr6:70160308-70160309	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545613453	chr6:70160322-70160323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565503849	chr6:70160346-70160347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs527960183	chr6:70160347-70160348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs2770326	chr6:70160376-70160377	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140801736	chr6:70160378-70160379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs530054781	chr6:70160386-70160387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549915667	chr6:70160399-70160400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569806022	chr6:70160445-70160446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532518050	chr6:70160451-70160452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529314216	chr6:70160461-70160462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs565574138	chr6:70160462-70160463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534535691	chr6:70160498-70160499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs9454762	chr6:70160514-70160515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372382166	chr6:70160524-70160525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2573021	chr6:70160559-70160560	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537012712	chr6:70160571-70160572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562170285	chr6:70160861-70160862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs185605583	chr6:70160862-70160863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532455624	chr6:70160881-70160882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554556468	chr6:70160883-70160884	ZNF genes & repeats	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70159800-70160000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:70159800-70160600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:70160800-70161600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:70160800-70161600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:70165200-70167400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:70165600-70166200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:70165600-70167200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:70165600-70167400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:70166000-70166600	Active TSS	Brain Anterior Caudate	brain
10	chr6:70166000-70167200	Enhancers	Brain Substantia Nigra	brain
11	chr6:70166200-70166600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:70166200-70166600	Enhancers	Brain Hippocampus Middle	brain
13	chr6:70166400-70167400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr6:70166600-70167800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:70167000-70167200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:70175600-70176200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:70175800-70177200	Enhancers	Brain Germinal Matrix	brain
18	chr6:70177000-70177200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:70177000-70177400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:70182200-70182600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:70190000-70190200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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