Variant report

Variant	nsv873066
Chromosome Location	chr1:197028634-197034826
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	chr1:197026462..197029856-chr1:197031681..197034887,3	K562	blood:
2	chr1:197026462..197029856-chr1:197031681..197034887,3	K562	blood:

Extended variants
information (count: 243 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2298883	chr1:197028634-197028635	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181440711	chr1:197028666-197028667	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564781089	chr1:197028681-197028682	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74987187	chr1:197028686-197028687	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184247670	chr1:197028709-197028710	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574577528	chr1:197028722-197028723	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568662675	chr1:197028767-197028768	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140381752	chr1:197028769-197028770	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551032255	chr1:197028778-197028779	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569225121	chr1:197028786-197028787	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188531510	chr1:197028801-197028802	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557689924	chr1:197028880-197028881	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570417272	chr1:197028902-197028903	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180992612	chr1:197028907-197028908	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552787250	chr1:197028993-197028994	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574557270	chr1:197029006-197029007	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145605995	chr1:197029032-197029033	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557036972	chr1:197029101-197029102	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575211557	chr1:197029154-197029155	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545819682	chr1:197029185-197029186	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564068473	chr1:197029223-197029224	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185995396	chr1:197029224-197029225	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540914353	chr1:197029334-197029335	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1332661	chr1:197029345-197029346	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138809324	chr1:197029357-197029358	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555140730	chr1:197029416-197029417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550859190	chr1:197029495-197029496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192115956	chr1:197029499-197029500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533222920	chr1:197029505-197029506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374521116	chr1:197029530-197029531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139285262	chr1:197029534-197029535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5994	chr1:197029536-197029537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35313992	chr1:197029569-197029570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145637157	chr1:197029592-197029593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534633822	chr1:197029598-197029599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182353865	chr1:197029626-197029627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187017140	chr1:197029647-197029648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375546267	chr1:197029651-197029652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535649658	chr1:197029698-197029699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17549603	chr1:197029710-197029711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542659628	chr1:197029745-197029746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556835037	chr1:197029776-197029777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575347456	chr1:197029856-197029857	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545905425	chr1:197029867-197029868	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557820555	chr1:197029913-197029914	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572856309	chr1:197029917-197029918	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540206384	chr1:197029959-197029960	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190518227	chr1:197029973-197029974	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112861386	chr1:197029998-197029999	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372394778	chr1:197030000-197030001	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
small cell lung cancer	20016488	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197017400-197029400	Strong transcription	Liver	Liver
2	chr1:197029400-197029800	Weak transcription	Liver	Liver
3	chr1:197029800-197031000	Genic enhancers	Liver	Liver
4	chr1:197031000-197033000	Enhancers	Liver	Liver
5	chr1:197031200-197032200	Enhancers	GM12878-XiMat	blood
6	chr1:197032000-197032200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:197032200-197032400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:197032200-197034000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:197033000-197034400	Flanking Active TSS	Liver	Liver
10	chr1:197034000-197034400	Enhancers	HSMMtube	muscle
11	chr1:197034000-197035200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:197034200-197034800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:197034200-197035200	Enhancers	Osteobl	bone
14	chr1:197034200-197035800	Enhancers	Fetal Heart	heart
15	chr1:197034400-197035000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:197034400-197036600	Active TSS	Liver	Liver
17	chr1:197034600-197035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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