Variant report

Variant	esv3345130
Chromosome Location	chr6:141712559-141715857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531511793	chr6:141712577-141712578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540622373	chr6:141712638-141712639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560959304	chr6:141712680-141712681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7763498	chr6:141712734-141712735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543346078	chr6:141712748-141712749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377030252	chr6:141712758-141712759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181821876	chr6:141712864-141712865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532122597	chr6:141712878-141712879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547547435	chr6:141712940-141712941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187031167	chr6:141712994-141712995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191105552	chr6:141713023-141713024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548498546	chr6:141713033-141713034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563470227	chr6:141713044-141713045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569170717	chr6:141713098-141713099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558795399	chr6:141713119-141713120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576857432	chr6:141713143-141713144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534683970	chr6:141713190-141713191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548869651	chr6:141713192-141713193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373270359	chr6:141713226-141713227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17070787	chr6:141713234-141713235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542263280	chr6:141713250-141713251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560935788	chr6:141713261-141713262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367613964	chr6:141713306-141713307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576153492	chr6:141713403-141713404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543762733	chr6:141713414-141713415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565161724	chr6:141713418-141713419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17070789	chr6:141713469-141713470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs547412948	chr6:141713470-141713471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559254338	chr6:141713487-141713488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7746931	chr6:141713518-141713519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6570460	chr6:141713549-141713550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7746952	chr6:141713558-141713559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537632575	chr6:141713597-141713598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73577529	chr6:141713617-141713618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71811514	chr6:141713637-141713638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538042927	chr6:141713642-141713643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368818493	chr6:141713797-141713798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111399910	chr6:141713827-141713828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534745166	chr6:141713847-141713848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552953429	chr6:141713850-141713851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574736758	chr6:141713877-141713878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535593643	chr6:141713920-141713921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10570652	chr6:141713941-141713942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565993382	chr6:141713943-141713944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150308962	chr6:141713946-141713947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557401125	chr6:141713987-141713988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554765973	chr6:141713997-141713998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141229089	chr6:141714009-141714010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200003054	chr6:141714010-141714011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6934518	chr6:141714012-141714013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141707800-141715800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:141711200-141712800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:141711600-141715400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:141712800-141713200	Enhancers	Fetal Brain Male	brain
5	chr6:141715000-141715400	Active TSS	HepG2	liver
6	chr6:141715400-141715600	Flanking Active TSS	HepG2	liver
7	chr6:141715600-141716400	Flanking Bivalent TSS/Enh	HepG2	liver
8	chr6:141715800-141716200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:141715800-141717200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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