Variant report

Variant	nsv525509
Chromosome Location	chr4:45638847-45641659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560779550	chr4:45640608-45640609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527890883	chr4:45640619-45640620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552657956	chr4:45640651-45640652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190919441	chr4:45640662-45640663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4694809	chr4:45640684-45640685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550232490	chr4:45640743-45640744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537200163	chr4:45640756-45640757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557193840	chr4:45640757-45640758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4695121	chr4:45640763-45640764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548069922	chr4:45640776-45640777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76202915	chr4:45640778-45640779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140154166	chr4:45640804-45640805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558197670	chr4:45640819-45640820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145338069	chr4:45640822-45640823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114253710	chr4:45640846-45640847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555788893	chr4:45640890-45640891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137969553	chr4:45640973-45640974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558326200	chr4:45640977-45640978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183940177	chr4:45640992-45640993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368805918	chr4:45641100-45641101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188892036	chr4:45641131-45641132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572571418	chr4:45641139-45641140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546435675	chr4:45641162-45641163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572293438	chr4:45641174-45641175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78103674	chr4:45641187-45641188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531870062	chr4:45641196-45641197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374499900	chr4:45641212-45641213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553269635	chr4:45641230-45641231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550193713	chr4:45641233-45641234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77279420	chr4:45641288-45641289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529278214	chr4:45641289-45641290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs63004161	chr4:45641313-45641314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397993225	chr4:45641321-45641322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112812439	chr4:45641328-45641329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140780005	chr4:45641329-45641330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533725799	chr4:45641334-45641335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376492289	chr4:45641356-45641357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570212338	chr4:45641359-45641360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187323852	chr4:45641376-45641377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537590525	chr4:45641389-45641390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373843294	chr4:45641424-45641425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555996437	chr4:45641527-45641528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574328982	chr4:45641541-45641542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575605004	chr4:45641569-45641570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144624711	chr4:45641601-45641602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7670730	chr4:45641659-45641660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45640600-45641000	Enhancers	Fetal Intestine Large	intestine
2	chr4:45640600-45641200	Enhancers	Fetal Intestine Small	intestine
3	chr4:45640800-45641200	Enhancers	Duodenum Mucosa	Duodenum
4	chr4:45640800-45641200	Enhancers	Stomach Mucosa	stomach
5	chr4:45640800-45641600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr4:45640800-45641800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:45641600-45648600	Weak transcription	Rectal Mucosa Donor 31	rectum

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