Variant report

Variant	esv3474640
Chromosome Location	chr6:128082759-128087557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112468782	chr6:128082759-128082760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143869503	chr6:128082770-128082771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148810619	chr6:128082798-128082799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539200549	chr6:128082818-128082819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78698583	chr6:128082826-128082827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142444337	chr6:128082857-128082858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368037518	chr6:128082879-128082880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192407350	chr6:128082898-128082899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148423109	chr6:128082901-128082902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552416639	chr6:128082936-128082937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9385439	chr6:128082957-128082958	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117923600	chr6:128082965-128082966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556756083	chr6:128082974-128082975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376833765	chr6:128083002-128083003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575048274	chr6:128083018-128083019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151308463	chr6:128083019-128083020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139339667	chr6:128083071-128083072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182415799	chr6:128083105-128083106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531521928	chr6:128083163-128083164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540205025	chr6:128083192-128083193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551525602	chr6:128083193-128083194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374158698	chr6:128083197-128083198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565008484	chr6:128083222-128083223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369253691	chr6:128083223-128083224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73773846	chr6:128083320-128083321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544296677	chr6:128083330-128083331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11961390	chr6:128083332-128083333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530275979	chr6:128083335-128083336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542200785	chr6:128083379-128083380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560838674	chr6:128083426-128083427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571101445	chr6:128083454-128083455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116705764	chr6:128083474-128083475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs270007	chr6:128083494-128083495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551537767	chr6:128083500-128083501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531694546	chr6:128083515-128083516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75827423	chr6:128083605-128083606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191904961	chr6:128083645-128083646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374308856	chr6:128083656-128083657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536442921	chr6:128083673-128083674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554596563	chr6:128083686-128083687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111867742	chr6:128083717-128083718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533908592	chr6:128083759-128083760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184509493	chr6:128083781-128083782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549257603	chr6:128083804-128083805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536234578	chr6:128083808-128083809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547104082	chr6:128083810-128083811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374868528	chr6:128083813-128083814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9491868	chr6:128083856-128083857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558607855	chr6:128083860-128083861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576864612	chr6:128083894-128083895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128074400-128082800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:128081800-128087800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr6:128082000-128084600	Enhancers	Dnd41	blood
4	chr6:128082200-128082800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:128082200-128082800	Enhancers	Fetal Brain Male	brain
6	chr6:128082200-128082800	Enhancers	Thymus	Thymus
7	chr6:128082200-128083000	Enhancers	Fetal Thymus	thymus
8	chr6:128082200-128087200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:128082200-128087400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:128082200-128089600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:128082400-128082800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:128082400-128085200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:128082400-128087200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:128082400-128088200	Enhancers	Primary T cells from cord blood	blood
15	chr6:128082600-128084600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:128082600-128087400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:128082800-128083000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:128082800-128083200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:128082800-128088200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:128082800-128103000	Weak transcription	Thymus	Thymus
21	chr6:128083000-128083400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:128083000-128087600	Weak transcription	Fetal Thymus	thymus
23	chr6:128083200-128085200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:128083400-128084400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:128084400-128103000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:128085200-128086200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:128085200-128086200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:128086200-128086400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:128086200-128087800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:128086400-128087000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:128087000-128087800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:128087200-128087600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:128087200-128087600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:128087400-128090200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:128087400-128099000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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