Variant report

Variant	nsv518548
Chromosome Location	chr6:128046713-128062827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128057816..128058584-chr6:128289323..128290031,2	MCF-7	breast:
2	chr6:128059940..128061656-chr6:128063186..128065829,2	K562	blood:
3	chr6:128057292..128059744-chr6:128288447..128291098,2	MCF-7	breast:
4	chr6:127875859..127876435-chr6:128057880..128058515,2	MCF-7	breast:

Extended variants
information (count: 606 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:606 , 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	rs564461	chr6:128046713-128046714	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563171303	chr6:128046718-128046719	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530122646	chr6:128046748-128046749	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548562751	chr6:128046774-128046775	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369375840	chr6:128046786-128046787	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560608989	chr6:128046859-128046860	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs185295726	chr6:128046871-128046872	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs546801387	chr6:128046882-128046883	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs571338072	chr6:128046951-128046952	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs569879295	chr6:128046987-128046988	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs112641656	chr6:128046996-128046997	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs568761991	chr6:128046999-128047000	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs549341236	chr6:128047010-128047011	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs535851446	chr6:128047064-128047065	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs35006988	chr6:128047077-128047078	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs377218853	chr6:128047110-128047111	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs376348994	chr6:128047136-128047137	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs374200203	chr6:128047146-128047147	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs554132912	chr6:128047199-128047200	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs572646543	chr6:128047208-128047209	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533637427	chr6:128047220-128047221	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558588937	chr6:128047316-128047317	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193291073	chr6:128047333-128047334	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184250377	chr6:128047335-128047336	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374542972	chr6:128047355-128047356	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563185355	chr6:128047369-128047370	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371717916	chr6:128047391-128047392	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575200624	chr6:128047395-128047396	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542291228	chr6:128047396-128047397	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560485159	chr6:128047473-128047474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527819715	chr6:128047475-128047476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371317160	chr6:128047480-128047481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552404384	chr6:128047492-128047493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77178858	chr6:128047521-128047522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113572927	chr6:128047541-128047542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550708506	chr6:128047554-128047555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562366731	chr6:128047628-128047629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558096028	chr6:128047641-128047642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568850255	chr6:128047666-128047667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536136144	chr6:128047736-128047737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547808734	chr6:128047851-128047852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112766682	chr6:128047908-128047909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533756147	chr6:128047924-128047925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs486235	chr6:128047943-128047944	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570489184	chr6:128047952-128047953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142528476	chr6:128047984-128047985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188387124	chr6:128048016-128048017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180934214	chr6:128048021-128048022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542524208	chr6:128048047-128048048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185551573	chr6:128048084-128048085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128024600-128051400	Strong transcription	Fetal Thymus	thymus
2	chr6:128025200-128047400	Strong transcription	Primary T cells from cord blood	blood
3	chr6:128026400-128049200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:128039800-128069200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:128040400-128052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:128041000-128048600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:128041200-128050400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:128043800-128047000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr6:128044600-128050200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:128045000-128047000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:128045600-128047000	Weak transcription	Thymus	Thymus
12	chr6:128045600-128069200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:128045800-128046800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:128045800-128048800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:128045800-128049600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:128046400-128046800	Enhancers	Fetal Lung	lung
17	chr6:128046800-128047000	Enhancers	Ovary	ovary
18	chr6:128046800-128047200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr6:128046800-128047200	Bivalent Enhancer	Fetal Lung	lung
20	chr6:128046800-128047400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:128047000-128047200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr6:128047000-128047400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:128047000-128047400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:128047000-128047400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:128047000-128047600	Strong transcription	Thymus	Thymus
26	chr6:128047000-128048400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:128047200-128082400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:128047400-128048000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:128047400-128048800	Weak transcription	Primary T cells from cord blood	blood
30	chr6:128047600-128060800	Weak transcription	Thymus	Thymus
31	chr6:128048000-128049000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:128048400-128051800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:128048600-128049200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:128048800-128049600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:128048800-128049800	Strong transcription	Primary T cells from cord blood	blood
36	chr6:128049000-128052800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr6:128049200-128049400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:128049200-128052000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:128049400-128049600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:128049600-128050400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr6:128049600-128051600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:128049800-128051000	Weak transcription	Primary T cells from cord blood	blood
43	chr6:128050200-128051400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr6:128050400-128051200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:128050400-128052800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:128051000-128052400	Enhancers	Primary T cells from cord blood	blood
47	chr6:128051200-128053800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:128051400-128053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr6:128051400-128053800	Weak transcription	Fetal Thymus	thymus
50	chr6:128051600-128052000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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