Variant report

Variant	nsv878809
Chromosome Location	chr4:30652196-30676425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 426 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574330221	chr4:30654603-30654604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186712580	chr4:30654659-30654660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563269724	chr4:30654664-30654665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536456585	chr4:30654678-30654679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545845706	chr4:30654713-30654714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368464508	chr4:30654717-30654718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1486784	chr4:30654746-30654747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555109531	chr4:30654772-30654773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548432009	chr4:30654773-30654774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561432452	chr4:30654776-30654777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138009727	chr4:30654805-30654806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191557920	chr4:30654808-30654809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73814404	chr4:30654904-30654905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529559960	chr4:30654914-30654915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551275383	chr4:30654937-30654938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149514065	chr4:30654970-30654971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183687269	chr4:30654971-30654972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368790363	chr4:30654987-30654988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187003245	chr4:30655004-30655005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376588671	chr4:30655022-30655023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191086084	chr4:30655036-30655037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182162542	chr4:30655059-30655060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372200284	chr4:30655078-30655079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3103048	chr4:30655104-30655105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77685948	chr4:30655142-30655143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535298983	chr4:30655161-30655162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549324627	chr4:30655237-30655238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144112770	chr4:30655268-30655269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575423529	chr4:30655284-30655285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148684491	chr4:30655285-30655286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs36061926	chr4:30655294-30655295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573230085	chr4:30655344-30655345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573222685	chr4:30655347-30655348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75054210	chr4:30655385-30655386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552266337	chr4:30655405-30655406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529420598	chr4:30655413-30655414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544791676	chr4:30655442-30655443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545999657	chr4:30655519-30655520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147349349	chr4:30655537-30655538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533418169	chr4:30655586-30655587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552088678	chr4:30655596-30655597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145078854	chr4:30655619-30655620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528101938	chr4:30655627-30655628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150959321	chr4:30655644-30655645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552421170	chr4:30655667-30655668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567782946	chr4:30655733-30655734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535197783	chr4:30655742-30655743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371596828	chr4:30655744-30655745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186703336	chr4:30655781-30655782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191555248	chr4:30655790-30655791	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30654600-30657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:30656800-30657200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:30663000-30665400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:30663200-30663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:30663600-30664000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:30664000-30664200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:30664200-30665000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:30665000-30665200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:30665200-30667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:30667400-30668200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:30667800-30668000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:30668200-30668400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:30668400-30669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:30669400-30669600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:30671800-30672400	Enhancers	Fetal Lung	lung
16	chr4:30673400-30674400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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