Variant report

Variant	nsv947362
Chromosome Location	chr1:195426124-195430091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540131007	chr1:195427025-195427026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144798366	chr1:195427035-195427036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368235880	chr1:195427051-195427052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573715933	chr1:195427071-195427072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544697238	chr1:195427083-195427084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562838917	chr1:195427164-195427165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533195090	chr1:195427207-195427208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551340245	chr1:195427273-195427274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560087054	chr1:195427274-195427275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527993529	chr1:195427316-195427317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189069601	chr1:195427324-195427325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574808286	chr1:195427446-195427447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76280784	chr1:195427533-195427534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550688416	chr1:195427584-195427585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528143896	chr1:195427585-195427586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150322878	chr1:195428015-195428016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532660689	chr1:195428080-195428081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573827477	chr1:195428081-195428082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191881497	chr1:195428155-195428156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184105979	chr1:195428177-195428178	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195427000-195427200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:195427200-195427600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:195428000-195428200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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