Variant report

Variant	nsv825931
Chromosome Location	chr1:195698959-195699710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111578134	chr1:195698959-195698960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184289580	chr1:195698986-195698987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9659825	chr1:195699018-195699019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560978743	chr1:195699041-195699042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145175200	chr1:195699044-195699045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549845953	chr1:195699056-195699057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571258012	chr1:195699057-195699058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138996464	chr1:195699139-195699140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141539178	chr1:195699155-195699156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115877920	chr1:195699160-195699161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557998864	chr1:195699189-195699190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190404827	chr1:195699223-195699224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182283601	chr1:195699229-195699230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115038720	chr1:195699234-195699235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573176825	chr1:195699253-195699254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113053396	chr1:195699275-195699276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72734161	chr1:195699285-195699286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537741521	chr1:195699288-195699289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74425108	chr1:195699293-195699294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149586099	chr1:195699324-195699325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147261010	chr1:195699325-195699326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553021092	chr1:195699379-195699380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74711220	chr1:195699411-195699412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542415015	chr1:195699431-195699432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542831272	chr1:195699436-195699437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561125313	chr1:195699497-195699498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576202021	chr1:195699504-195699505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184604115	chr1:195699531-195699532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543716426	chr1:195699594-195699595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544514610	chr1:195699608-195699609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565214056	chr1:195699611-195699612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532112567	chr1:195699617-195699618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377149073	chr1:195699634-195699635	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195693400-195699200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:195699200-195699400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:195699200-195700000	Enhancers	Muscle Satellite Cultured Cells	--

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