Variant report

Variant	nsv527360
Chromosome Location	chr1:170223350-170228295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1547282	chr1:170223350-170223351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141248090	chr1:170223546-170223547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560963989	chr1:170223592-170223593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368610457	chr1:170223600-170223601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371592559	chr1:170223608-170223609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560321580	chr1:170223618-170223619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531630961	chr1:170223749-170223750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550003455	chr1:170223761-170223762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571752200	chr1:170223767-170223768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113976843	chr1:170223768-170223769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566932615	chr1:170223799-170223800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547972342	chr1:170223805-170223806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566346305	chr1:170223806-170223807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536958690	chr1:170223830-170223831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6673581	chr1:170223835-170223836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569646188	chr1:170223843-170223844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182870710	chr1:170223926-170223927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570404408	chr1:170224404-170224405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71635653	chr1:170224429-170224430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192128420	chr1:170224431-170224432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558528810	chr1:170224443-170224444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549234943	chr1:170224453-170224454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567813976	chr1:170224454-170224455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570424976	chr1:170224462-170224463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534730999	chr1:170224496-170224497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552829166	chr1:170224500-170224501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574271657	chr1:170224526-170224527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538450876	chr1:170224533-170224534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7553444	chr1:170224534-170224535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556796576	chr1:170224539-170224540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575181723	chr1:170224540-170224541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543423563	chr1:170224560-170224561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536636359	chr1:170224573-170224574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4656208	chr1:170224575-170224576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113404356	chr1:170224633-170224634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541490943	chr1:170224664-170224665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57553833	chr1:170224745-170224746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184476902	chr1:170224776-170224777	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	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
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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170222400-170224000	Enhancers	Fetal Muscle Leg	muscle
2	chr1:170224400-170224800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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