Variant report

Variant	nsv881307
Chromosome Location	chr5:8697444-8718172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 634 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200008	chr5:8697444-8697445	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555010113	chr5:8697522-8697523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541648241	chr5:8697531-8697532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574966603	chr5:8697613-8697614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553285333	chr5:8697630-8697631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543683904	chr5:8697646-8697647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563562436	chr5:8697720-8697721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576496037	chr5:8697739-8697740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575038331	chr5:8697744-8697745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558878891	chr5:8697813-8697814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528123184	chr5:8697828-8697829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548459070	chr5:8697861-8697862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185806402	chr5:8697882-8697883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561871825	chr5:8697918-8697919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530707954	chr5:8697923-8697924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550764548	chr5:8697961-8697962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570673898	chr5:8698020-8698021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532609962	chr5:8698043-8698044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370374200	chr5:8698065-8698066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552707024	chr5:8698073-8698074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140082625	chr5:8698111-8698112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563939549	chr5:8698139-8698140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534750153	chr5:8698150-8698151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35437450	chr5:8698160-8698161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555228076	chr5:8698163-8698164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568631611	chr5:8698216-8698217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537362650	chr5:8698244-8698245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543743670	chr5:8698269-8698270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545797325	chr5:8698296-8698297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545488509	chr5:8698298-8698299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564240760	chr5:8698304-8698305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552688060	chr5:8698315-8698316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572778535	chr5:8698321-8698322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541491552	chr5:8698322-8698323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561748814	chr5:8698358-8698359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530685069	chr5:8698360-8698361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544529992	chr5:8698365-8698366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200007	chr5:8698396-8698397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533210534	chr5:8698408-8698409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552695131	chr5:8698419-8698420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566075588	chr5:8698422-8698423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528607936	chr5:8698433-8698434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548254401	chr5:8698479-8698480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182347712	chr5:8698567-8698568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568449845	chr5:8698584-8698585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111931935	chr5:8698623-8698624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188612171	chr5:8698639-8698640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557277039	chr5:8698645-8698646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192309022	chr5:8698646-8698647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539677125	chr5:8698648-8698649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8693000-8697600	Enhancers	Fetal Lung	lung
2	chr5:8696800-8700400	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:8696800-8700800	Weak transcription	Fetal Stomach	stomach
4	chr5:8697600-8699600	Weak transcription	Fetal Lung	lung
5	chr5:8699600-8702200	Enhancers	Fetal Lung	lung
6	chr5:8700000-8701800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:8700400-8700600	Enhancers	NHLF	lung
8	chr5:8700400-8701600	Enhancers	Fetal Muscle Leg	muscle
9	chr5:8700400-8701600	Enhancers	Ovary	ovary
10	chr5:8700600-8701000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:8700600-8701000	Flanking Active TSS	NHLF	lung
12	chr5:8700800-8701800	Enhancers	Fetal Stomach	stomach
13	chr5:8701000-8701800	Enhancers	NHLF	lung
14	chr5:8702200-8710600	Weak transcription	Fetal Lung	lung
15	chr5:8710600-8711800	Enhancers	Fetal Lung	lung
16	chr5:8717600-8718000	Active TSS	Right Ventricle	heart

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