Variant report

Variant	nsv964267
Chromosome Location	chr4:28772558-28776534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576954286	chr4:28772611-28772612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114554854	chr4:28772637-28772638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117010022	chr4:28772646-28772647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530883528	chr4:28772695-28772696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80341192	chr4:28772714-28772715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560906871	chr4:28772840-28772841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530426163	chr4:28772843-28772844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184215298	chr4:28772865-28772866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189389805	chr4:28772873-28772874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147555928	chr4:28772912-28772913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552278654	chr4:28772913-28772914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549856833	chr4:28772935-28772936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116787201	chr4:28772939-28772940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113495250	chr4:28772948-28772949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1493138	chr4:28772950-28772951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371208796	chr4:28773017-28773018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373456507	chr4:28773044-28773045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77343280	chr4:28773051-28773052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181079986	chr4:28773063-28773064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140642221	chr4:28773102-28773103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577128213	chr4:28773117-28773118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576995911	chr4:28773185-28773186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545700334	chr4:28773198-28773199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144535895	chr4:28773213-28773214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575344628	chr4:28773350-28773351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375459524	chr4:28773396-28773397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551913894	chr4:28773417-28773418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184314564	chr4:28773455-28773456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546874037	chr4:28773464-28773465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560994956	chr4:28773467-28773468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530035125	chr4:28773538-28773539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547308119	chr4:28773553-28773554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190784110	chr4:28773557-28773558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147843547	chr4:28773586-28773587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112758181	chr4:28773630-28773631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569425212	chr4:28773639-28773640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140301554	chr4:28773641-28773642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28438868	chr4:28773662-28773663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368171036	chr4:28773756-28773757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370335205	chr4:28773797-28773798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150339798	chr4:28773849-28773850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116060847	chr4:28773896-28773897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553698749	chr4:28773911-28773912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559394261	chr4:28773955-28773956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539680248	chr4:28773963-28773964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145285529	chr4:28773994-28773995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575829446	chr4:28774015-28774016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181821287	chr4:28774132-28774133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528544603	chr4:28774187-28774188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186154951	chr4:28774303-28774304	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28772600-28773000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:28773000-28773400	Enhancers	Colon Smooth Muscle	Colon
3	chr4:28773000-28774400	Enhancers	HSMM	muscle
4	chr4:28773000-28774400	Enhancers	NH-A	brain
5	chr4:28773000-28774600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:28773400-28774600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:28773400-28774800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:28775200-28775400	Enhancers	Fetal Heart	heart
9	chr4:28775200-28775600	Active TSS	Ovary	ovary
10	chr4:28775400-28775800	Flanking Active TSS	Fetal Heart	heart
11	chr4:28775800-28777400	Enhancers	Fetal Heart	heart
12	chr4:28776400-28776800	Enhancers	Brain Germinal Matrix	brain

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