Variant report

Variant	nsv971594
Chromosome Location	chr8:63594002-63596416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7828204	chr8:63594050-63594051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183493009	chr8:63594066-63594067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150035731	chr8:63594086-63594087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565344777	chr8:63594104-63594105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201518530	chr8:63594122-63594123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577269895	chr8:63594137-63594138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541572689	chr8:63594145-63594146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549014340	chr8:63594150-63594151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559681376	chr8:63594157-63594158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562189735	chr8:63594195-63594196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527875045	chr8:63594220-63594221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530363912	chr8:63594250-63594251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569573781	chr8:63594291-63594292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548449644	chr8:63594309-63594310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563670710	chr8:63594335-63594336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548140806	chr8:63594336-63594337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551780297	chr8:63594347-63594348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535374565	chr8:63594369-63594370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187420254	chr8:63594400-63594401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367761437	chr8:63594529-63594530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374430473	chr8:63594603-63594604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528186242	chr8:63594605-63594606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546716950	chr8:63594613-63594614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571140266	chr8:63594631-63594632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192527061	chr8:63594677-63594678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535669411	chr8:63594692-63594693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540112185	chr8:63594747-63594748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557277786	chr8:63594799-63594800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550216264	chr8:63594882-63594883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34008773	chr8:63594910-63594911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569995701	chr8:63594981-63594982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77942250	chr8:63594995-63594996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114999782	chr8:63595037-63595038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs35980983	chr8:63595049-63595050	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559000816	chr8:63595050-63595051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs577207352	chr8:63595097-63595098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541162594	chr8:63595129-63595130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375791510	chr8:63595195-63595196	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574916957	chr8:63595215-63595216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542031094	chr8:63595266-63595267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563609212	chr8:63595310-63595311	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7004299	chr8:63595351-63595352	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545355553	chr8:63595415-63595416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563919460	chr8:63595457-63595458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145709759	chr8:63595567-63595568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146878511	chr8:63595581-63595582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145558500	chr8:63595582-63595583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555827133	chr8:63595584-63595585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572187246	chr8:63595585-63595586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546358440	chr8:63595596-63595597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63572400-63602600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63587400-63602600	Weak transcription	Fetal Brain Female	brain
3	chr8:63594600-63596400	Enhancers	Fetal Intestine Large	intestine
4	chr8:63594800-63595000	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:63594800-63595400	Enhancers	Right Atrium	heart
6	chr8:63594800-63596000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:63594800-63596400	Enhancers	Fetal Intestine Small	intestine
8	chr8:63595000-63595400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:63595000-63595400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr8:63595000-63595400	Enhancers	Left Ventricle	heart
11	chr8:63595000-63596400	Enhancers	Stomach Mucosa	stomach
12	chr8:63595400-63596400	Weak transcription	Left Ventricle	heart
13	chr8:63595400-63596400	Weak transcription	Right Atrium	heart
14	chr8:63595400-63596600	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:63595400-63596600	Enhancers	Hela-S3	cervix
16	chr8:63596200-63596600	Enhancers	Psoas Muscle	Psoas
17	chr8:63596400-63596600	Enhancers	Left Ventricle	heart
18	chr8:63596400-63596600	Enhancers	Right Atrium	heart

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