Variant report

Variant	esv2584437
Chromosome Location	chr6:131019361-131020770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131019021..131019768-chr6:131080914..131081754,2	MCF-7	breast:
2	chr6:130614261..130615556-chr6:131018820..131019730,3	MCF-7	breast:
3	chr6:130643524..130644551-chr6:131018759..131019797,15	MCF-7	breast:
4	chr6:130643796..130644450-chr6:131018869..131019419,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150427772	chr6:131019375-131019376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554358548	chr6:131019391-131019392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138429920	chr6:131019466-131019467	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191881627	chr6:131019487-131019488	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564096570	chr6:131019504-131019505	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184113535	chr6:131019516-131019517	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543505516	chr6:131019560-131019561	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536574304	chr6:131019588-131019589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7747811	chr6:131019627-131019628	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs72992295	chr6:131019640-131019641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143946768	chr6:131019674-131019675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146767540	chr6:131019718-131019719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139318635	chr6:131019719-131019720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187051971	chr6:131019757-131019758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537090229	chr6:131019817-131019818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7747747	chr6:131019825-131019826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149435014	chr6:131019931-131019932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534736806	chr6:131019965-131019966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62431631	chr6:131020042-131020043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554025525	chr6:131020089-131020090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144857745	chr6:131020184-131020185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565038705	chr6:131020188-131020189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539732579	chr6:131020225-131020226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563496943	chr6:131020239-131020240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62431632	chr6:131020253-131020254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80086769	chr6:131020287-131020288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192950139	chr6:131020288-131020289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62431633	chr6:131020294-131020295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185088866	chr6:131020317-131020318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543448545	chr6:131020320-131020321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562131643	chr6:131020325-131020326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574024943	chr6:131020337-131020338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148396744	chr6:131020371-131020372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111629770	chr6:131020386-131020387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190415963	chr6:131020405-131020406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559244249	chr6:131020415-131020416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533195568	chr6:131020421-131020422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182347427	chr6:131020440-131020441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563609714	chr6:131020447-131020448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183792951	chr6:131020458-131020459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117831121	chr6:131020524-131020525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567255884	chr6:131020542-131020543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188063554	chr6:131020566-131020567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368486204	chr6:131020675-131020676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141654938	chr6:131020739-131020740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Brain cancer	19584924	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131017600-131019600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:131017600-131019600	Enhancers	Osteobl	bone
3	chr6:131017800-131019400	Enhancers	NHEK	skin
4	chr6:131017800-131019600	Enhancers	Primary T cells from cord blood	blood
5	chr6:131017800-131019600	Enhancers	NHDF-Ad	bronchial
6	chr6:131018000-131019600	Enhancers	Dnd41	blood
7	chr6:131018000-131020800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:131018200-131019400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:131018200-131019600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:131018200-131019600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:131018200-131019600	Enhancers	NH-A	brain
12	chr6:131018400-131019600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:131018400-131029200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:131019000-131019400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:131019000-131019400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:131019000-131019400	Enhancers	Fetal Thymus	thymus
17	chr6:131019000-131019600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:131019200-131019400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:131019200-131019800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:131019200-131021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:131019200-131022400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:131019200-131023000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:131019200-131023000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:131019200-131023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:131019400-131019600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:131019400-131019600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:131019400-131020800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:131019400-131022800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:131019600-131022400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:131019600-131022600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:131019600-131023200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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