Variant report

Variant	esv3374497
Chromosome Location	chr8:3628769-3631317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58171140	chr8:3628772-3628773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116387255	chr8:3628788-3628789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200518614	chr8:3628806-3628807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146506794	chr8:3628845-3628846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2407039	chr8:3628864-3628865	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552967846	chr8:3628870-3628871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577889780	chr8:3628880-3628881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577300294	chr8:3628893-3628894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545322702	chr8:3628909-3628910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563525811	chr8:3628913-3628914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573145392	chr8:3628917-3628918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531053278	chr8:3628920-3628921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138741642	chr8:3628949-3628950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376182968	chr8:3628953-3628954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199796631	chr8:3628960-3628961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386721112	chr8:3628962-3628963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113338150	chr8:3628963-3628964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201103516	chr8:3628964-3628965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2897574	chr8:3628979-3628980	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576030067	chr8:3628981-3628982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187955341	chr8:3628986-3628987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149349385	chr8:3628988-3628989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569820888	chr8:3629000-3629001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536802146	chr8:3629011-3629012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572271441	chr8:3629016-3629017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570180670	chr8:3629035-3629036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567622023	chr8:3629056-3629057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544782842	chr8:3629061-3629062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534815818	chr8:3629064-3629065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552928834	chr8:3629093-3629094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77286236	chr8:3629095-3629096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55663067	chr8:3629111-3629112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192408490	chr8:3629140-3629141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78113756	chr8:3629153-3629154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368109083	chr8:3629155-3629156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559442630	chr8:3629199-3629200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80111992	chr8:3629201-3629202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528025562	chr8:3629209-3629210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148169357	chr8:3629214-3629215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143025491	chr8:3629233-3629234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2720771	chr8:3629243-3629244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532997343	chr8:3629244-3629245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146128718	chr8:3629293-3629294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76567431	chr8:3629299-3629300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530851965	chr8:3629315-3629316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548879798	chr8:3629320-3629321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184955479	chr8:3629339-3629340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534778723	chr8:3629347-3629348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187370284	chr8:3629348-3629349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74338343	chr8:3629353-3629354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3625000-3636400	Weak transcription	Fetal Brain Male	brain
2	chr8:3626800-3631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:3628800-3629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:3629600-3633400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:3631200-3631600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:3631200-3631600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:3631200-3632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links