Variant report

Variant	esv3365895
Chromosome Location	chr6:72163481-72168279
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	chr6:72167541..72168145-chr6:72219544..72220163,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OGFRL1-2	chr6:72168182-72168374	ENSG00000223765.2
2	lnc-OGFRL1-2	chr6:72168181-72168374	NONHSAT113512
3	lnc-OGFRL1-2	chr6:72168182-72168374	XLOC_005343

Extended variants
information (count: 186 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs555568394	chr6:72163501-72163502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541797775	chr6:72163574-72163575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189835286	chr6:72163575-72163576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560244876	chr6:72163591-72163592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527805596	chr6:72163664-72163665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574023412	chr6:72163668-72163669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181615050	chr6:72163677-72163678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184057611	chr6:72163699-72163700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531926702	chr6:72163768-72163769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149508927	chr6:72163776-72163777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568716354	chr6:72163807-72163808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560468567	chr6:72163855-72163856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201206278	chr6:72163871-72163872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs852943	chr6:72163964-72163965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs71538490	chr6:72163988-72163989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200268333	chr6:72163990-72163991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116206558	chr6:72163991-72163992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114069844	chr6:72163992-72163993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35418536	chr6:72163994-72163995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533875877	chr6:72164006-72164007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558579421	chr6:72164021-72164022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188743620	chr6:72164032-72164033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528805485	chr6:72164044-72164045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76449321	chr6:72164202-72164203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556209309	chr6:72164271-72164272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371192029	chr6:72164302-72164303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574657877	chr6:72164343-72164344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541695702	chr6:72164376-72164377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs852944	chr6:72164390-72164391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs572070094	chr6:72164426-72164427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546343137	chr6:72164442-72164443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34326827	chr6:72164446-72164447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144185450	chr6:72164475-72164476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58258982	chr6:72164479-72164480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6938591	chr6:72164553-72164554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561626517	chr6:72164590-72164591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80011236	chr6:72164595-72164596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562108144	chr6:72164619-72164620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566327711	chr6:72164631-72164632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548062878	chr6:72164672-72164673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180804284	chr6:72164718-72164719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148679692	chr6:72164719-72164720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs852945	chr6:72164814-72164815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186068151	chr6:72164816-72164817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543818503	chr6:72164911-72164912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537676997	chr6:72164931-72164932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192249197	chr6:72164955-72164956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181945668	chr6:72164974-72164975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535374462	chr6:72165053-72165054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187391803	chr6:72165090-72165091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72156000-72167400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:72162600-72167400	Weak transcription	HSMMtube	muscle
3	chr6:72162800-72170400	Weak transcription	NHDF-Ad	bronchial
4	chr6:72167400-72167800	Enhancers	HMEC	breast
5	chr6:72167400-72167800	Enhancers	HSMMtube	muscle
6	chr6:72167400-72167800	Enhancers	NHEK	skin
7	chr6:72167400-72168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:72167400-72168000	Enhancers	Fetal Muscle Leg	muscle
9	chr6:72167600-72168000	Enhancers	Adipose Nuclei	Adipose
10	chr6:72167600-72168400	Enhancers	Lung	lung
11	chr6:72167600-72168400	Enhancers	Pancreas	Pancrea
12	chr6:72167800-72170600	Weak transcription	HMEC	breast
13	chr6:72168000-72170800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:72168000-72171000	Weak transcription	Adipose Nuclei	Adipose
15	chr6:72168200-72168400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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