Variant report

Variant	esv3391591
Chromosome Location	chr6:150264703-150265789
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	chr6:150263150..150264777-chr6:150325600..150328449,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000218358	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376668322	chr6:150264720-150264721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549696977	chr6:150264762-150264763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35922042	chr6:150264781-150264782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527678591	chr6:150264840-150264841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372250719	chr6:150264843-150264844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531927509	chr6:150264850-150264851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552033861	chr6:150264949-150264950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566226483	chr6:150265006-150265007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13191857	chr6:150265012-150265013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147355588	chr6:150265039-150265040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137857292	chr6:150265054-150265055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535122923	chr6:150265058-150265059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7754206	chr6:150265063-150265064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554722800	chr6:150265067-150265068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535889244	chr6:150265075-150265076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556028486	chr6:150265090-150265091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139377259	chr6:150265119-150265120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6934348	chr6:150265137-150265138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367806958	chr6:150265153-150265154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578003918	chr6:150265182-150265183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370264810	chr6:150265189-150265190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377567039	chr6:150265198-150265199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73782159	chr6:150265208-150265209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574075148	chr6:150265276-150265277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543080518	chr6:150265336-150265337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115575704	chr6:150265451-150265452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79947657	chr6:150265469-150265470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74448273	chr6:150265470-150265471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565482138	chr6:150265502-150265503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527347670	chr6:150265522-150265523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547464781	chr6:150265553-150265554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567289040	chr6:150265566-150265567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535828701	chr6:150265583-150265584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549393347	chr6:150265603-150265604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569586064	chr6:150265614-150265615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538555639	chr6:150265696-150265697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558420223	chr6:150265711-150265712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572201099	chr6:150265722-150265723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534555356	chr6:150265723-150265724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554221518	chr6:150265733-150265734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574207118	chr6:150265764-150265765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150263600-150267800	Weak transcription	Lung	lung
2	chr6:150263800-150269600	Weak transcription	HSMMtube	muscle
3	chr6:150263800-150271000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:150263800-150271600	Weak transcription	NHEK	skin
5	chr6:150264000-150264800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:150264000-150269200	Weak transcription	Osteobl	bone
7	chr6:150264000-150270800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:150264000-150271800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:150264000-150272000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:150264000-150274600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:150264200-150264800	Enhancers	Dnd41	blood
12	chr6:150264200-150271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:150264200-150271800	Weak transcription	HSMM	muscle
14	chr6:150264400-150265000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:150264400-150274800	Weak transcription	HMEC	breast
16	chr6:150264800-150269200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:150265000-150267600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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