Variant report

Variant	nsv1033543
Chromosome Location	chr6:54978528-55000338
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	chr13:74703120..74703896-chr6:54980071..54980846,2	MCF-7	breast:

Extended variants
information (count: 151 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4451134	chr6:54979211-54979212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75061542	chr6:54979247-54979248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568676504	chr6:54979251-54979252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533702325	chr6:54979295-54979296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112052148	chr6:54979314-54979315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549874888	chr6:54979321-54979322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537338350	chr6:54979330-54979331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199642048	chr6:54979361-54979362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535558756	chr6:54979431-54979432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555946951	chr6:54979470-54979471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4518485	chr6:54979492-54979493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34628502	chr6:54979536-54979537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144862277	chr6:54979553-54979554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57915824	chr6:54979554-54979555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577977130	chr6:54979577-54979578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543715627	chr6:54979582-54979583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191439224	chr6:54979609-54979610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184031741	chr6:54979613-54979614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539547848	chr6:54979643-54979644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138617196	chr6:54979685-54979686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572861556	chr6:54979706-54979707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149295888	chr6:54979742-54979743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188765870	chr6:54979783-54979784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541199579	chr6:54979852-54979853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561100348	chr6:54979856-54979857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564358409	chr6:54979870-54979871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533444526	chr6:54979916-54979917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574841828	chr6:54979931-54979932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372975185	chr6:54979958-54979959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534364011	chr6:54979967-54979968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550480900	chr6:54979988-54979989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569949570	chr6:54980006-54980007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543698583	chr6:54980013-54980014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529326831	chr6:54980051-54980052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549404329	chr6:54980074-54980075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566130233	chr6:54980082-54980083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548014481	chr6:54980095-54980096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535142312	chr6:54980119-54980120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563379383	chr6:54980125-54980126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557949154	chr6:54980149-54980150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193067509	chr6:54980172-54980173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571452002	chr6:54980214-54980215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4428489	chr6:54980231-54980232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557268575	chr6:54980276-54980277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143591141	chr6:54980278-54980279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113357346	chr6:54980279-54980280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146122799	chr6:54980282-54980283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142776752	chr6:54980283-54980284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141297708	chr6:54980285-54980286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138560738	chr6:54980299-54980300	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54979200-54980400	Enhancers	Duodenum Mucosa	Duodenum
2	chr6:54979600-54980400	Enhancers	Fetal Intestine Small	intestine
3	chr6:54980400-54981600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:54981400-54982000	Enhancers	Hela-S3	cervix
5	chr6:54981600-54981800	Enhancers	Duodenum Mucosa	Duodenum
6	chr6:54994000-54994400	Enhancers	Hela-S3	cervix

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