Variant report

Variant	nsv963234
Chromosome Location	chr2:56977469-56978214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-3	chr2:56977435-56977698	NONHSAT070829

Extended variants
information (count: 26 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377459911	chr2:56977490-56977491	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs150184588	chr2:56977519-56977520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs557614953	chr2:56977573-56977574	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs138956831	chr2:56977600-56977601	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs188289005	chr2:56977609-56977610	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs553496893	chr2:56977650-56977651	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs573221008	chr2:56977658-56977659	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs62163426	chr2:56977668-56977669	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs542069939	chr2:56977689-56977690	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs191689103	chr2:56977708-56977709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370591096	chr2:56977830-56977831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374875626	chr2:56977871-56977872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184246312	chr2:56977885-56977886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs977375	chr2:56977912-56977913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs141810043	chr2:56977913-56977914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533433403	chr2:56977934-56977935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374926730	chr2:56977953-56977954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540079383	chr2:56977988-56977989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560249089	chr2:56977991-56977992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529214795	chr2:56978082-56978083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114599248	chr2:56978101-56978102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562770144	chr2:56978138-56978139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189736509	chr2:56978143-56978144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551341869	chr2:56978166-56978167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563794264	chr2:56978180-56978181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571269837	chr2:56978214-56978215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56969000-56978600	Weak transcription	Aorta	Aorta
2	chr2:56977600-56978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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