Variant report

Variant	esv2480577
Chromosome Location	chr6:80649708-80651056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80649918..80652477-chr6:80718505..80720470,2	K562	blood:
2	chr6:80646006..80648770-chr6:80649212..80651183,2	MCF-7	breast:
3	chr6:80646889..80649492-chr6:80650023..80652919,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531735301	chr6:80649714-80649715	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs239522	chr6:80649722-80649723	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567584791	chr6:80649775-80649776	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185617961	chr6:80649777-80649778	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17239071	chr6:80649817-80649818	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74436177	chr6:80649839-80649840	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188864858	chr6:80649883-80649884	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538304083	chr6:80649904-80649905	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558232088	chr6:80650017-80650018	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138777138	chr6:80650031-80650032	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs118030638	chr6:80650034-80650035	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141507164	chr6:80650071-80650072	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7758672	chr6:80650091-80650092	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146196696	chr6:80650111-80650112	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139190685	chr6:80650122-80650123	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76781253	chr6:80650170-80650171	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546274352	chr6:80650181-80650182	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563019785	chr6:80650290-80650291	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180827616	chr6:80650331-80650332	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75187702	chr6:80650380-80650381	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114383780	chr6:80650393-80650394	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs239521	chr6:80650411-80650412	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141661897	chr6:80650459-80650460	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60751270	chr6:80650546-80650547	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533861835	chr6:80650632-80650633	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201559620	chr6:80650646-80650647	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377343357	chr6:80650647-80650648	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576769455	chr6:80650652-80650653	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559866027	chr6:80650714-80650715	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs68159317	chr6:80650730-80650731	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75348140	chr6:80650864-80650865	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551847939	chr6:80650902-80650903	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568970239	chr6:80650954-80650955	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537424670	chr6:80650955-80650956	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548143900	chr6:80650966-80650967	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376677212	chr6:80650985-80650986	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567979995	chr6:80651005-80651006	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562564669	chr6:80651024-80651025	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80618400-80656000	Weak transcription	Aorta	Aorta
2	chr6:80631000-80653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:80632000-80654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:80634800-80651000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:80638400-80651000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:80638800-80653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:80640200-80654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:80645800-80651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:80646600-80651000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:80646800-80651600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:80647000-80651000	Weak transcription	Thymus	Thymus
12	chr6:80647800-80651600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:80648400-80651200	Weak transcription	Fetal Thymus	thymus
14	chr6:80648600-80651000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:80648600-80653000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:80648800-80651000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:80648800-80653000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:80649200-80650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:80649200-80651000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:80649600-80651000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:80649600-80651600	Genic enhancers	Dnd41	blood
22	chr6:80650800-80652000	Enhancers	HUVEC	blood vessel
23	chr6:80650800-80653800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:80651000-80651200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:80651000-80651400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:80651000-80651600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:80651000-80652000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:80651000-80653000	Active TSS	Thymus	Thymus
29	chr6:80651000-80653400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:80651000-80653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:80651000-80655200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:80651000-80655600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links