Variant report

Variant	nsv997286
Chromosome Location	chr4:59605553-59633187
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	chr4:59616982..59619599-chr6:27805611..27807692,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184348	chromatin interactions
ENSG00000233822	chromatin interactions

Extended variants
information (count: 348 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368301479	chr4:59614415-59614416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532070943	chr4:59614417-59614418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192935276	chr4:59614438-59614439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4865362	chr4:59614439-59614440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs17218343	chr4:59614469-59614470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536459444	chr4:59614486-59614487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554510714	chr4:59614490-59614491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548430810	chr4:59614499-59614500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569950153	chr4:59614518-59614519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17051426	chr4:59614589-59614590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566755828	chr4:59614594-59614595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552399036	chr4:59614599-59614600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570698678	chr4:59614612-59614613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73821028	chr4:59614674-59614675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13117539	chr4:59614675-59614676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs55894705	chr4:59614680-59614681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79500346	chr4:59614702-59614703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574747380	chr4:59614746-59614747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3922040	chr4:59614769-59614770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527613500	chr4:59614782-59614783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188457370	chr4:59614859-59614860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575508956	chr4:59614888-59614889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546133759	chr4:59614925-59614926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75243572	chr4:59614962-59614963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573361603	chr4:59614981-59614982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368614882	chr4:59615023-59615024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116346302	chr4:59615024-59615025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114731244	chr4:59615025-59615026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115357467	chr4:59615026-59615027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557618752	chr4:59615027-59615028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541440224	chr4:59615032-59615033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528777713	chr4:59615038-59615039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530815060	chr4:59615059-59615060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552508417	chr4:59615086-59615087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540941113	chr4:59615103-59615104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528297150	chr4:59615122-59615123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191329123	chr4:59615138-59615139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185046748	chr4:59615189-59615190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367934481	chr4:59615208-59615209	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs17827430	chr4:59615238-59615239	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556931670	chr4:59615247-59615248	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568922623	chr4:59615266-59615267	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539699731	chr4:59615301-59615302	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs190695643	chr4:59615321-59615322	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181983269	chr4:59615336-59615337	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540455342	chr4:59615337-59615338	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs11133583	chr4:59615359-59615360	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574447075	chr4:59615365-59615366	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs13118635	chr4:59615386-59615387	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186976158	chr4:59615422-59615423	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59614400-59616800	Enhancers	Fetal Intestine Small	intestine
2	chr4:59614600-59615400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:59615200-59615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:59615200-59615800	Enhancers	Fetal Intestine Large	intestine
5	chr4:59615200-59616000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:59615400-59616000	Active TSS	Duodenum Mucosa	Duodenum
7	chr4:59623200-59623800	Active TSS	A549	lung
8	chr4:59626600-59627000	Enhancers	A549	lung
9	chr4:59626600-59627800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:59632800-59633200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:59633000-59633800	Enhancers	A549	lung

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