Variant report

Variant	esv3338849
Chromosome Location	chr6:128067459-128069257
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	chr6:128066047..128067934-chr6:128068998..128071308,2	MCF-7	breast:
2	chr6:128066047..128067934-chr6:128068998..128071308,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9491860	chr6:128067464-128067465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367625145	chr6:128067466-128067467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74443013	chr6:128067476-128067477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546168666	chr6:128067524-128067525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193135899	chr6:128067541-128067542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538739228	chr6:128067546-128067547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550782262	chr6:128067556-128067557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548472040	chr6:128067557-128067558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80245036	chr6:128067561-128067562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77772645	chr6:128067599-128067600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536403673	chr6:128067630-128067631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9482838	chr6:128067693-128067694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555341026	chr6:128067702-128067703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184376459	chr6:128067703-128067704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534213628	chr6:128067717-128067718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12198905	chr6:128067756-128067757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12198957	chr6:128067785-128067786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189072980	chr6:128067839-128067840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544695342	chr6:128067856-128067857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534690283	chr6:128067916-128067917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9491861	chr6:128067968-128067969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9491862	chr6:128067971-128067972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13211983	chr6:128068057-128068058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367704332	chr6:128068068-128068069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59079140	chr6:128068069-128068070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60047779	chr6:128068074-128068075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13195975	chr6:128068111-128068112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56978535	chr6:128068116-128068117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57060804	chr6:128068126-128068127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9372880	chr6:128068132-128068133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60200828	chr6:128068153-128068154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546953305	chr6:128068156-128068157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58098395	chr6:128068159-128068160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549595318	chr6:128068174-128068175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13196080	chr6:128068177-128068178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58685607	chr6:128068179-128068180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13196088	chr6:128068196-128068197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58537180	chr6:128068204-128068205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181584607	chr6:128068209-128068210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575434699	chr6:128068211-128068212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13212248	chr6:128068213-128068214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9401995	chr6:128068244-128068245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13212266	chr6:128068248-128068249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9385438	chr6:128068249-128068250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9401996	chr6:128068279-128068280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542452200	chr6:128068286-128068287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187563903	chr6:128068362-128068363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61280063	chr6:128068369-128068370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60801695	chr6:128068370-128068371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200690846	chr6:128068473-128068474	Weak 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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128039800-128069200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:128045600-128069200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:128047200-128082400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:128055200-128069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:128056800-128069200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:128058800-128068800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:128060200-128069000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:128061800-128082200	Weak transcription	Thymus	Thymus
9	chr6:128063000-128069000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:128063200-128069000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:128065400-128067600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:128066000-128069000	Weak transcription	Primary T cells from cord blood	blood
13	chr6:128067000-128068800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:128067200-128069200	Weak transcription	Fetal Thymus	thymus
15	chr6:128067600-128068800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:128068800-128069400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:128068800-128074600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:128068800-128076600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:128069000-128069800	Genic enhancers	Primary T cells from cord blood	blood
20	chr6:128069000-128071400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr6:128069000-128072200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:128069000-128074800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:128069000-128076000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:128069200-128069400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:128069200-128071000	Strong transcription	Fetal Thymus	thymus
26	chr6:128069200-128071800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:128069200-128074400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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