Variant report

Variant	nsv539357
Chromosome Location	chr8:3572757-3602404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:3585079..3586753-chr8:3589988..3592650,2	MCF-7	breast:
2	chr8:3585079..3586753-chr8:3589988..3592650,2	MCF-7	breast:

Extended variants
information (count: 2149 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2149 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537206142	chr8:3575816-3575817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572008493	chr8:3575817-3575818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574170651	chr8:3575818-3575819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397809736	chr8:3575826-3575827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369709912	chr8:3575830-3575831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551803828	chr8:3575847-3575848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541571303	chr8:3575851-3575852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559760471	chr8:3575852-3575853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560107305	chr8:3575864-3575865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571941694	chr8:3575878-3575879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534366667	chr8:3575880-3575881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554452885	chr8:3575899-3575900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572964423	chr8:3575907-3575908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115757075	chr8:3575913-3575914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200929739	chr8:3575921-3575922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112519554	chr8:3575924-3575925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149662531	chr8:3575925-3575926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7843888	chr8:3575929-3575930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542803278	chr8:3575940-3575941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561181969	chr8:3575960-3575961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528935846	chr8:3575966-3575967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547062850	chr8:3575973-3575974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565655941	chr8:3575978-3575979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532902761	chr8:3575990-3575991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186683123	chr8:3575997-3575998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80104569	chr8:3576017-3576018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191082759	chr8:3576029-3576030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7844030	chr8:3576034-3576035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145670302	chr8:3576067-3576068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534832166	chr8:3576083-3576084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553468946	chr8:3576088-3576089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75718111	chr8:3576090-3576091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528013954	chr8:3576097-3576098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542888970	chr8:3576109-3576110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545338758	chr8:3576121-3576122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183666857	chr8:3576125-3576126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557122863	chr8:3576152-3576153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372303644	chr8:3576179-3576180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148481621	chr8:3576217-3576218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542942242	chr8:3576222-3576223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561268746	chr8:3576234-3576235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528628650	chr8:3576244-3576245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540437886	chr8:3576287-3576288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559355337	chr8:3576312-3576313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189055996	chr8:3576319-3576320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144126443	chr8:3576324-3576325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569582798	chr8:3576325-3576326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146489293	chr8:3576326-3576327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561215446	chr8:3576337-3576338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549268835	chr8:3576341-3576342	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3575800-3576800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:3576000-3576600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:3576000-3576600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:3576000-3577400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:3576200-3576600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:3576200-3576600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:3576200-3576600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:3576200-3577000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:3576400-3578400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:3577400-3577800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:3577400-3578200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:3578400-3585600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:3583400-3584000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:3583400-3585200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:3583600-3584800	Enhancers	HMEC	breast
16	chr8:3584800-3587400	Weak transcription	HMEC	breast
17	chr8:3587600-3587800	Enhancers	HMEC	breast
18	chr8:3590000-3590200	Enhancers	Liver	Liver
19	chr8:3592400-3593200	Enhancers	Liver	Liver
20	chr8:3592600-3592800	Enhancers	Pancreas	Pancrea
21	chr8:3592600-3593200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:3592800-3600400	Weak transcription	Pancreas	Pancrea
23	chr8:3593000-3593400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:3593200-3596600	Weak transcription	Liver	Liver
25	chr8:3594200-3594400	Enhancers	Fetal Intestine Large	intestine
26	chr8:3594200-3595200	Enhancers	Fetal Intestine Small	intestine
27	chr8:3594600-3595800	Weak transcription	Fetal Intestine Large	intestine
28	chr8:3595200-3596000	Weak transcription	Fetal Intestine Small	intestine
29	chr8:3595800-3597400	Enhancers	Fetal Intestine Large	intestine
30	chr8:3596000-3597400	Enhancers	Fetal Intestine Small	intestine
31	chr8:3596600-3597800	Enhancers	Liver	Liver
32	chr8:3597400-3599200	Weak transcription	Fetal Intestine Large	intestine
33	chr8:3597400-3599200	Weak transcription	Fetal Intestine Small	intestine
34	chr8:3599200-3599800	Enhancers	Fetal Intestine Small	intestine
35	chr8:3599200-3600800	Enhancers	Fetal Intestine Large	intestine
36	chr8:3599800-3600200	Weak transcription	Fetal Intestine Small	intestine
37	chr8:3600200-3602400	Enhancers	Fetal Intestine Small	intestine
38	chr8:3600400-3600800	Enhancers	Pancreas	Pancrea

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