Variant report

Variant	nsv548412
Chromosome Location	chr1:187460898-187466247
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	chr1:187460603..187462421-chr1:187469087..187470836,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10912079	chr1:187460898-187460899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140814142	chr1:187460923-187460924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549843043	chr1:187460963-187460964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570097110	chr1:187461031-187461032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188874289	chr1:187461032-187461033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555708504	chr1:187461037-187461038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571247706	chr1:187461050-187461051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538752999	chr1:187461131-187461132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192188500	chr1:187461219-187461220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534904574	chr1:187461227-187461228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553250871	chr1:187461232-187461233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35529998	chr1:187461255-187461256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74135631	chr1:187461263-187461264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545183799	chr1:187461265-187461266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558931612	chr1:187461282-187461283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184220418	chr1:187461310-187461311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575272858	chr1:187461329-187461330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10753008	chr1:187461339-187461340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560924860	chr1:187461353-187461354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529587401	chr1:187461462-187461463	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs66837422	chr1:187461464-187461465	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10753010	chr1:187461465-187461466	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533361414	chr1:187461513-187461514	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551922226	chr1:187461533-187461534	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570077371	chr1:187461572-187461573	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531017433	chr1:187461621-187461622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372226782	chr1:187461663-187461664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567660387	chr1:187461691-187461692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534968986	chr1:187461698-187461699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553314306	chr1:187461716-187461717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7554573	chr1:187461719-187461720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs564968741	chr1:187461749-187461750	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:187459800-187461600	Enhancers	Hela-S3	cervix
2	chr1:187460000-187461400	Enhancers	A549	lung
3	chr1:187460000-187461800	Enhancers	HepG2	liver
4	chr1:187460200-187461200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:187460200-187461200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:187460200-187461200	Weak transcription	Placenta	Placenta
7	chr1:187461200-187461600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:187461200-187461600	Enhancers	Placenta	Placenta
9	chr1:187461200-187461800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:187461400-187461600	ZNF genes & repeats	Right Atrium	heart

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