Variant report

Variant	esv3444794
Chromosome Location	chr6:141311659-141315657
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	chr6:141314907..141317721-chr6:141319915..141321447,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527364387	chr6:141311694-141311695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201916893	chr6:141311762-141311763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542887483	chr6:141311791-141311792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200024798	chr6:141311833-141311834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560574922	chr6:141311877-141311878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531175958	chr6:141311907-141311908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543123848	chr6:141311916-141311917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547475335	chr6:141311919-141311920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138280745	chr6:141311988-141311989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376752846	chr6:141312084-141312085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76056726	chr6:141312140-141312141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544263236	chr6:141312176-141312177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566247540	chr6:141312239-141312240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530354419	chr6:141312242-141312243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548834513	chr6:141312248-141312249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142870714	chr6:141312251-141312252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570080354	chr6:141312254-141312255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111628444	chr6:141312258-141312259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529685750	chr6:141312331-141312332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1819633	chr6:141312367-141312368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559095069	chr6:141312369-141312370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1819634	chr6:141312398-141312399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs36113157	chr6:141312411-141312412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191105867	chr6:141312414-141312415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553713898	chr6:141312415-141312416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572178514	chr6:141312424-141312425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9495869	chr6:141312486-141312487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77727170	chr6:141312506-141312507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183774694	chr6:141312557-141312558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368381741	chr6:141312576-141312577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543062854	chr6:141312609-141312610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78169076	chr6:141312647-141312648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35316005	chr6:141312661-141312662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188455755	chr6:141312667-141312668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139558640	chr6:141312669-141312670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193045264	chr6:141312691-141312692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149307089	chr6:141312700-141312701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144600162	chr6:141312738-141312739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531226962	chr6:141312754-141312755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552643711	chr6:141312768-141312769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534762564	chr6:141312799-141312800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9389842	chr6:141312802-141312803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148494286	chr6:141312809-141312810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184961280	chr6:141312820-141312821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565746889	chr6:141312857-141312858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13198517	chr6:141312895-141312896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13198538	chr6:141312928-141312929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13198542	chr6:141312933-141312934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191607331	chr6:141312942-141312943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142485301	chr6:141312966-141312967	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
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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141310600-141314200	Weak transcription	HSMM	muscle
2	chr6:141314000-141314200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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