Variant report

Variant	nsv523087
Chromosome Location	chr1:179352736-179371973
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	chr1:179366133..179368260-chr1:179371106..179373571,2	K562	blood:
2	chr1:179366133..179368260-chr1:179371106..179373571,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4077551	chr1:179352736-179352737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539948453	chr1:179352755-179352756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559946237	chr1:179352756-179352757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190419366	chr1:179352787-179352788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542099757	chr1:179352822-179352823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370927403	chr1:179352824-179352825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4077552	chr1:179352925-179352926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531262286	chr1:179352936-179352937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566526534	chr1:179352969-179352970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551269528	chr1:179353023-179353024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564490747	chr1:179353030-179353031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533326197	chr1:179353048-179353049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546967413	chr1:179353095-179353096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182950306	chr1:179353112-179353113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148289549	chr1:179353131-179353132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538279957	chr1:179353149-179353150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572965160	chr1:179353157-179353158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548931004	chr1:179353160-179353161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568683959	chr1:179353196-179353197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373017871	chr1:179353239-179353240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537763611	chr1:179353258-179353259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538414583	chr1:179353310-179353311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557589830	chr1:179353325-179353326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113236169	chr1:179353333-179353334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533600884	chr1:179353338-179353339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553721013	chr1:179353394-179353395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76206816	chr1:179353424-179353425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35978436	chr1:179353439-179353440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4261076	chr1:179353440-179353441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs74130195	chr1:179353476-179353477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79992940	chr1:179353508-179353509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187102730	chr1:179353555-179353556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557182911	chr1:179353609-179353610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564815763	chr1:179353618-179353619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150667958	chr1:179353670-179353671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534496896	chr1:179353751-179353752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111535666	chr1:179353769-179353770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139851676	chr1:179353787-179353788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553124847	chr1:179358619-179358620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573092165	chr1:179358623-179358624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11807559	chr1:179358626-179358627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs187795353	chr1:179358646-179358647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34338301	chr1:179358683-179358684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145614892	chr1:179358698-179358699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370640694	chr1:179358787-179358788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192617613	chr1:179358791-179358792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184965439	chr1:179358816-179358817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577656064	chr1:179358824-179358825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546113766	chr1:179358873-179358874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559875521	chr1:179358887-179358888	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179352600-179353800	Enhancers	HepG2	liver
2	chr1:179358600-179359400	Enhancers	Ovary	ovary
3	chr1:179366600-179367000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:179367200-179367600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:179367200-179367600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:179367600-179368200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:179367800-179368000	Enhancers	Pancreas	Pancrea
8	chr1:179367800-179368200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:179368000-179368200	ZNF genes & repeats	Pancreas	Pancrea

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