Variant report

Variant	esv3416837
Chromosome Location	chr6:141866859-141870357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559866979	chr6:141866865-141866866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527296423	chr6:141866878-141866879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139616805	chr6:141866890-141866891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567944431	chr6:141866952-141866953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192932623	chr6:141867001-141867002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7749907	chr6:141867021-141867022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535350409	chr6:141867048-141867049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182379955	chr6:141867095-141867096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144431382	chr6:141867106-141867107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74755979	chr6:141867129-141867130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566073279	chr6:141867132-141867133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536625041	chr6:141867143-141867144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187458279	chr6:141867168-141867169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573872940	chr6:141867186-141867187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35888899	chr6:141867246-141867247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550952543	chr6:141867249-141867250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148393548	chr6:141867279-141867280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577935387	chr6:141867323-141867324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145037533	chr6:141867332-141867333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143166079	chr6:141867374-141867375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7750562	chr6:141867459-141867460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527441002	chr6:141867480-141867481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544030857	chr6:141867536-141867537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564225707	chr6:141867561-141867562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542598959	chr6:141867562-141867563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191951034	chr6:141867565-141867566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531836742	chr6:141867575-141867576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62430847	chr6:141867577-141867578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62430848	chr6:141867579-141867580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62430849	chr6:141867582-141867583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550082012	chr6:141867594-141867595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202212129	chr6:141867596-141867597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184828830	chr6:141867610-141867611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34950318	chr6:141867641-141867642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201361528	chr6:141867753-141867754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547699004	chr6:141867778-141867779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71562580	chr6:141867808-141867809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190559621	chr6:141867810-141867811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9484524	chr6:141867826-141867827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549377902	chr6:141867860-141867861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563216259	chr6:141867916-141867917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554909911	chr6:141867958-141867959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147576317	chr6:141868012-141868013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538110624	chr6:141868082-141868083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556514267	chr6:141868114-141868115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574040826	chr6:141868144-141868145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368102634	chr6:141868150-141868151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536050410	chr6:141868185-141868186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74596207	chr6:141868223-141868224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192522536	chr6:141868245-141868246	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141827800-141870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:141863400-141870400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:141869800-141871000	Enhancers	HUVEC	blood vessel
4	chr6:141870200-141871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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