Variant report

Variant	nsv878808
Chromosome Location	chr4:30630382-30663240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:30657504..30660121-chr4:30665099..30668575,3	MCF-7	breast:
2	chr4:30657308..30659820-chr4:30660104..30662010,2	MCF-7	breast:
3	chr4:30657308..30659820-chr4:30660104..30662010,2	MCF-7	breast:

Extended variants
information (count: 232 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs186286828	chr4:30643025-30643026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569424619	chr4:30643032-30643033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540086056	chr4:30643052-30643053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544277395	chr4:30643092-30643093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564546132	chr4:30643106-30643107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191985142	chr4:30643107-30643108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567208301	chr4:30643194-30643195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534514377	chr4:30643271-30643272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147537104	chr4:30643288-30643289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375478535	chr4:30643298-30643299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139827212	chr4:30643333-30643334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111558163	chr4:30643426-30643427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563536813	chr4:30643432-30643433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541865938	chr4:30643445-30643446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571700808	chr4:30643470-30643471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556816878	chr4:30643492-30643493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575089825	chr4:30643530-30643531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141847684	chr4:30643593-30643594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564022832	chr4:30643723-30643724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528334658	chr4:30643796-30643797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75588160	chr4:30643809-30643810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562068585	chr4:30643847-30643848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370314538	chr4:30643894-30643895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180734850	chr4:30643906-30643907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2129376	chr4:30643907-30643908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150633438	chr4:30643963-30643964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377537188	chr4:30643965-30643966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13137924	chr4:30643978-30643979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551972285	chr4:30643979-30643980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567093185	chr4:30644008-30644009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372018675	chr4:30644066-30644067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534460925	chr4:30644067-30644068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10517210	chr4:30644080-30644081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568035745	chr4:30644110-30644111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529493688	chr4:30644161-30644162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556994175	chr4:30644162-30644163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575027922	chr4:30644220-30644221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186039540	chr4:30644262-30644263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191133831	chr4:30644283-30644284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562440649	chr4:30644288-30644289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1160017	chr4:30644303-30644304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77856977	chr4:30644320-30644321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377492443	chr4:30644338-30644339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10517211	chr4:30644383-30644384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs77939876	chr4:30644434-30644435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139751203	chr4:30644441-30644442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533439890	chr4:30644448-30644449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551910992	chr4:30644509-30644510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560631677	chr4:30644515-30644516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74852948	chr4:30644552-30644553	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30643000-30643600	Enhancers	Pancreas	Pancrea
2	chr4:30643200-30646000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:30654600-30657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:30656800-30657200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:30663000-30665400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:30663200-30663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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