Variant report

Variant	esv3473514
Chromosome Location	chr6:141377696-141380210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147702366	chr6:141377834-141377835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189176647	chr6:141377980-141377981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11301225	chr6:141377991-141377992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111975913	chr6:141377993-141377994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs398048896	chr6:141377999-141378000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570105271	chr6:141378015-141378016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12173616	chr6:141378032-141378033	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546269613	chr6:141378051-141378052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568352955	chr6:141378140-141378141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74409519	chr6:141378148-141378149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557654048	chr6:141378179-141378180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569401552	chr6:141378286-141378287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376582215	chr6:141378287-141378288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539828864	chr6:141378404-141378405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374667721	chr6:141378410-141378411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554010958	chr6:141378426-141378427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576761458	chr6:141378494-141378495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573271198	chr6:141378523-141378524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540758834	chr6:141378538-141378539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555881738	chr6:141378575-141378576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574708137	chr6:141378602-141378603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9389860	chr6:141378636-141378637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58467617	chr6:141378669-141378670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563610390	chr6:141378689-141378690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116933132	chr6:141378691-141378692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9403238	chr6:141378693-141378694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142159694	chr6:141378701-141378702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563769051	chr6:141378717-141378718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72983105	chr6:141378728-141378729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142190801	chr6:141378761-141378762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193123353	chr6:141378806-141378807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185561909	chr6:141378812-141378813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530873880	chr6:141378877-141378878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535618247	chr6:141378889-141378890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531497638	chr6:141378910-141378911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372444207	chr6:141378967-141378968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569422565	chr6:141379004-141379005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373192594	chr6:141379013-141379014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73776860	chr6:141379018-141379019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558467513	chr6:141379023-141379024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151211688	chr6:141379039-141379040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534148324	chr6:141379045-141379046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140402325	chr6:141379056-141379057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150289891	chr6:141379057-141379058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547296584	chr6:141379080-141379081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137882863	chr6:141379093-141379094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79036028	chr6:141379098-141379099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567147590	chr6:141379177-141379178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532899543	chr6:141379185-141379186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575375395	chr6:141379213-141379214	Enhancers	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141377800-141379200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:141378000-141379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:141378200-141380200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:141378400-141378800	Enhancers	Fetal Heart	heart
5	chr6:141378400-141379200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:141378400-141379200	Enhancers	Right Atrium	heart
7	chr6:141378400-141379400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:141378400-141379800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:141378600-141379000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:141378600-141379200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:141378600-141379200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:141378600-141379600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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