Variant report

Variant	esv3352274
Chromosome Location	chr6:142323559-142327357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542529047	chr6:142323564-142323565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113630454	chr6:142323596-142323597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200163758	chr6:142323606-142323607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561996028	chr6:142323607-142323608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373881912	chr6:142323608-142323609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113756018	chr6:142323627-142323628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143804237	chr6:142323638-142323639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552579516	chr6:142323653-142323654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538989931	chr6:142323760-142323761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114677113	chr6:142323807-142323808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538590839	chr6:142323846-142323847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547661997	chr6:142323857-142323858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77660600	chr6:142323878-142323879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535997321	chr6:142323927-142323928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554251644	chr6:142323947-142323948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188604583	chr6:142323969-142323970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111497683	chr6:142323976-142323977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112945143	chr6:142323982-142323983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576754363	chr6:142323995-142323996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139757216	chr6:142324005-142324006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116079607	chr6:142324043-142324044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186080331	chr6:142324052-142324053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149390273	chr6:142324069-142324070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368951958	chr6:142324075-142324076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114885978	chr6:142324138-142324139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144544605	chr6:142324154-142324155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546306992	chr6:142324167-142324168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148445217	chr6:142324174-142324175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144100080	chr6:142324191-142324192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146509701	chr6:142324195-142324196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139980759	chr6:142324198-142324199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76314747	chr6:142324221-142324222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190055868	chr6:142324265-142324266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565695232	chr6:142324287-142324288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372013335	chr6:142324301-142324302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11758425	chr6:142324304-142324305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570397146	chr6:142324358-142324359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554858967	chr6:142324373-142324374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116159503	chr6:142324429-142324430	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542602120	chr6:142324497-142324498	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143149189	chr6:142324517-142324518	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151150769	chr6:142324607-142324608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17071344	chr6:142324609-142324610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187240769	chr6:142324635-142324636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575899150	chr6:142324641-142324642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377230043	chr6:142324675-142324676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116642603	chr6:142324691-142324692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114185777	chr6:142324732-142324733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200740267	chr6:142324751-142324752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528487795	chr6:142324787-142324788	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
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
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142310800-142334400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:142311000-142329000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:142312200-142329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:142320800-142330200	Weak transcription	HSMM	muscle
5	chr6:142322200-142324200	Weak transcription	K562	blood
6	chr6:142324200-142324400	Enhancers	K562	blood
7	chr6:142324400-142324600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:142324400-142324600	Active TSS	Muscle Satellite Cultured Cells	--
9	chr6:142324400-142324600	Genic enhancers	K562	blood
10	chr6:142324600-142326200	Weak transcription	K562	blood
11	chr6:142324600-142335000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:142326200-142326600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:142326200-142326800	Enhancers	K562	blood
14	chr6:142326800-142330000	Weak transcription	K562	blood

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