Variant report

Variant	nsv546911
Chromosome Location	chr1:102734951-102828675
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	chr1:102816532..102818032-chr6:130363143..130365830,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-1	chr1:102775825-102775884	XLOC_000943
2	lnc-OLFM3-1	chr1:102775826-102775884	XLOC_000943

Variant related genes	Relation type
C1orf103	miRNA target sites

Extended variants
information (count: 180 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564701989	chr1:102749421-102749422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532469192	chr1:102749436-102749437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80268305	chr1:102749445-102749446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527618262	chr1:102749511-102749512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568716693	chr1:102749539-102749540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192653066	chr1:102749559-102749560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184683329	chr1:102749562-102749563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75586174	chr1:102749563-102749564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566673116	chr1:102749618-102749619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570798723	chr1:102749710-102749711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12041714	chr1:102749787-102749788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558945582	chr1:102749824-102749825	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570724879	chr1:102749854-102749855	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567549707	chr1:102749858-102749859	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375570165	chr1:102749905-102749906	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116672813	chr1:102749913-102749914	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147977720	chr1:102749916-102749917	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72994920	chr1:102749936-102749937	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554401606	chr1:102749967-102749968	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187722213	chr1:102749976-102749977	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539934598	chr1:102750011-102750012	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141698049	chr1:102750032-102750033	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150529286	chr1:102750052-102750053	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192751864	chr1:102750053-102750054	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536515348	chr1:102750066-102750067	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138282200	chr1:102750081-102750082	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529938174	chr1:102750084-102750085	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367552209	chr1:102750095-102750096	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138329276	chr1:102750098-102750099	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550303363	chr1:102750246-102750247	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568529174	chr1:102750266-102750267	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548009794	chr1:102750268-102750269	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1341883	chr1:102750280-102750281	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527802522	chr1:102750284-102750285	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552363286	chr1:102750335-102750336	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12035744	chr1:102750360-102750361	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142918010	chr1:102750410-102750411	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112136751	chr1:102750413-102750414	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568817465	chr1:102750452-102750453	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536131401	chr1:102750480-102750481	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76685054	chr1:102750510-102750511	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375526017	chr1:102750513-102750514	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1341884	chr1:102750518-102750519	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370551548	chr1:102750524-102750525	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533907264	chr1:102750588-102750589	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558330695	chr1:102750627-102750628	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576864385	chr1:102750643-102750644	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546639933	chr1:102750653-102750654	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76218507	chr1:102750670-102750671	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574426745	chr1:102750690-102750691	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102749400-102749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:102749800-102750800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:102750800-102751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:102778200-102778600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:102791800-102792000	Enhancers	Pancreas	Pancrea
6	chr1:102818200-102818800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:102828200-102828600	Enhancers	HUVEC	blood vessel

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