Variant report

Variant	nsv972547
Chromosome Location	chr8:3412335-3418349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 573 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551259945	chr8:3412341-3412342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569446236	chr8:3412350-3412351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537078051	chr8:3412386-3412387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555379965	chr8:3412399-3412400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377482030	chr8:3412406-3412407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544112939	chr8:3412416-3412417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370975508	chr8:3412421-3412422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142735015	chr8:3412425-3412426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182930353	chr8:3412435-3412436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534725067	chr8:3412440-3412441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11996513	chr8:3412443-3412444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186896447	chr8:3412450-3412451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544875650	chr8:3412458-3412459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557260371	chr8:3412459-3412460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79362439	chr8:3412464-3412465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200475423	chr8:3412467-3412468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75609124	chr8:3412481-3412482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531334630	chr8:3412483-3412484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201779636	chr8:3412490-3412491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142731789	chr8:3412494-3412495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540337067	chr8:3412495-3412496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565186608	chr8:3412507-3412508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151008798	chr8:3412528-3412529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76174909	chr8:3412541-3412542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117873202	chr8:3412545-3412546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191366775	chr8:3412551-3412552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139933674	chr8:3412552-3412553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534552700	chr8:3412566-3412567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10104614	chr8:3412567-3412568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566473918	chr8:3412578-3412579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373951387	chr8:3412600-3412601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77559327	chr8:3412612-3412613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575366887	chr8:3412617-3412618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542526686	chr8:3412622-3412623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554400836	chr8:3412644-3412645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373701757	chr8:3412669-3412670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11993899	chr8:3412670-3412671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565417596	chr8:3412671-3412672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4875734	chr8:3412672-3412673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544666431	chr8:3412684-3412685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143359089	chr8:3412692-3412693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146715652	chr8:3412712-3412713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141309666	chr8:3412717-3412718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567169761	chr8:3412729-3412730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371901926	chr8:3412733-3412734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528135967	chr8:3412743-3412744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116861149	chr8:3412757-3412758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571344969	chr8:3412774-3412775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113027931	chr8:3412778-3412779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183201831	chr8:3412779-3412780	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3411600-3412800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:3411600-3412800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:3411600-3413000	Enhancers	Liver	Liver
4	chr8:3411800-3412400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:3411800-3412800	Enhancers	Fetal Heart	heart
6	chr8:3412000-3412400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:3412000-3412600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:3412000-3412600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:3412000-3412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:3412000-3412800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:3412000-3413000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:3412200-3412400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:3412200-3412600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:3413000-3414000	Weak transcription	Liver	Liver
15	chr8:3413000-3415800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:3413400-3417200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:3414000-3417000	Enhancers	Liver	Liver
18	chr8:3414200-3414400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:3414200-3414400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:3414400-3417400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:3415600-3416000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:3415800-3416000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr8:3416000-3417600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links