Variant report

Variant	esv3357551
Chromosome Location	chr6:141871234-141878633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:141872843..141874835-chr6:141881492..141883832,2	MCF-7	breast:
2	chr6:141849385..141852203-chr6:141876737..141879397,2	MCF-7	breast:
3	chr6:141872370..141875304-chr6:141879080..141881515,2	MCF-7	breast:

Extended variants
information (count: 264 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113361225	chr6:141871238-141871239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72359111	chr6:141871239-141871240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386408800	chr6:141871246-141871247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58201636	chr6:141871249-141871250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200009265	chr6:141871250-141871251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144334006	chr6:141871335-141871336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558368761	chr6:141871372-141871373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573213363	chr6:141871374-141871375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532082357	chr6:141871384-141871385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112608370	chr6:141871453-141871454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144505926	chr6:141871559-141871560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561909179	chr6:141871615-141871616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529267726	chr6:141871670-141871671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544235560	chr6:141871700-141871701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10872537	chr6:141871744-141871745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530760543	chr6:141871786-141871787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551945357	chr6:141871819-141871820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182884932	chr6:141871847-141871848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375910896	chr6:141871895-141871896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188948926	chr6:141871936-141871937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34954910	chr6:141871953-141871954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117698662	chr6:141871963-141871964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546690050	chr6:141872005-141872006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568097484	chr6:141872080-141872081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193259797	chr6:141872153-141872154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527906298	chr6:141872200-141872201	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550640292	chr6:141872202-141872203	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34323014	chr6:141872257-141872258	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35928932	chr6:141872315-141872316	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546352638	chr6:141872398-141872399	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566592682	chr6:141872435-141872436	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72987189	chr6:141872520-141872521	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9403319	chr6:141872530-141872531	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs558020146	chr6:141872531-141872532	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569378316	chr6:141872532-141872533	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568808966	chr6:141872538-141872539	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373973332	chr6:141872558-141872559	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534005479	chr6:141872598-141872599	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185368974	chr6:141872625-141872626	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187947161	chr6:141872626-141872627	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191285113	chr6:141872638-141872639	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554668051	chr6:141872652-141872653	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562584650	chr6:141872670-141872671	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575157361	chr6:141872722-141872723	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75845396	chr6:141872739-141872740	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184292238	chr6:141872753-141872754	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114215547	chr6:141872755-141872756	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528273774	chr6:141872756-141872757	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533720282	chr6:141872774-141872775	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188588365	chr6:141872858-141872859	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141870400-141871400	Enhancers	Hela-S3	cervix
2	chr6:141871000-141871400	Enhancers	HepG2	liver
3	chr6:141871000-141873200	Weak transcription	HUVEC	blood vessel
4	chr6:141871000-141873400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:141871200-141871400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:141871200-141872200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:141871400-141873000	Weak transcription	Hela-S3	cervix
8	chr6:141872200-141873200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:141872200-141873400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:141873000-141874000	Enhancers	HepG2	liver
11	chr6:141873000-141875000	Enhancers	Hela-S3	cervix
12	chr6:141873200-141873400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:141873200-141875200	Enhancers	HUVEC	blood vessel
14	chr6:141873400-141873800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:141873400-141873800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:141873400-141873800	Enhancers	A549	lung
17	chr6:141873400-141874400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:141873400-141874400	Enhancers	HMEC	breast
19	chr6:141873400-141874400	Enhancers	NH-A	brain
20	chr6:141873400-141874400	Enhancers	NHEK	skin
21	chr6:141873600-141873800	Enhancers	Liver	Liver
22	chr6:141873600-141874000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:141873600-141874000	Enhancers	Small Intestine	intestine
24	chr6:141873600-141874400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:141874000-141874800	Weak transcription	HepG2	liver
26	chr6:141874800-141875000	Enhancers	HepG2	liver
27	chr6:141875000-141875400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:141875000-141875800	Enhancers	Primary B cells from cord blood	blood
29	chr6:141875400-141875800	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:141875400-141883400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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