Variant report

Variant	esv3403441
Chromosome Location	chr6:133157730-133160114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133148667..133150225-chr6:133157678..133160436,2	MCF-7	breast:
2	chr6:133141835..133144313-chr6:133156927..133159674,3	K562	blood:
3	chr6:133133683..133137845-chr6:133157752..133163297,5	K562	blood:
4	chr6:133151897..133155334-chr6:133156928..133160559,4	K562	blood:

Variant related genes	Relation type
ENSG00000206754	chromatin interactions
ENSG00000112306	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550593848	chr6:133157769-133157770	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569592044	chr6:133157785-133157786	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567819672	chr6:133157787-133157788	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs144246620	chr6:133157808-133157809	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550357583	chr6:133157811-133157812	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78225972	chr6:133157818-133157819	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539751544	chr6:133157869-133157870	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556170498	chr6:133157922-133157923	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576425741	chr6:133157936-133157937	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535477147	chr6:133157960-133157961	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147202394	chr6:133157981-133157982	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs73558395	chr6:133157991-133157992	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187889791	chr6:133157996-133157997	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs56335598	chr6:133158009-133158010	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73558396	chr6:133158033-133158034	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs578200872	chr6:133158053-133158054	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544128615	chr6:133158081-133158082	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147771468	chr6:133158163-133158164	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74766913	chr6:133158175-133158176	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192978143	chr6:133158200-133158201	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536268911	chr6:133158252-133158253	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527407440	chr6:133158289-133158290	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs547071424	chr6:133158332-133158333	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9373030	chr6:133158349-133158350	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs539249604	chr6:133158365-133158366	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550097229	chr6:133158387-133158388	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569853780	chr6:133158393-133158394	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs9321378	chr6:133158410-133158411	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184312592	chr6:133158433-133158434	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9321379	chr6:133158449-133158450	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28459337	chr6:133158450-133158451	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373912882	chr6:133158488-133158489	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs9493461	chr6:133158493-133158494	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140815452	chr6:133158554-133158555	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs376536370	chr6:133158568-133158569	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs578153486	chr6:133158576-133158577	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543649531	chr6:133158601-133158602	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369808258	chr6:133158608-133158609	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113750470	chr6:133158623-133158624	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs71801391	chr6:133158624-133158625	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557491128	chr6:133158625-133158626	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs386408648	chr6:133158632-133158633	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374073678	chr6:133158633-133158634	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs35740297	chr6:133158634-133158635	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs62425139	chr6:133158635-133158636	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574268872	chr6:133158642-133158643	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs189641147	chr6:133158657-133158658	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs9321380	chr6:133158739-133158740	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527279165	chr6:133158742-133158743	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540770747	chr6:133158763-133158764	Inactive region	Chromatin interactive region	2 gene(s)	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
Colorectal cancer	16272173	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
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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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