Variant report

Variant	esv3443555
Chromosome Location	chr6:72165581-72167679
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:

Extended variants
information (count: 86 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555831133	chr6:72165657-72165658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114636093	chr6:72165765-72165766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539320147	chr6:72165773-72165774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558155430	chr6:72165815-72165816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574006956	chr6:72165819-72165820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576310099	chr6:72165825-72165826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9455466	chr6:72165851-72165852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535034886	chr6:72165884-72165885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192739937	chr6:72165920-72165921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541614533	chr6:72165963-72165964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371846388	chr6:72165983-72165984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560121851	chr6:72166015-72166016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185384969	chr6:72166053-72166054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200498143	chr6:72166068-72166069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9455467	chr6:72166089-72166090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578057263	chr6:72166191-72166192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189147016	chr6:72166200-72166201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192023948	chr6:72166201-72166202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367919271	chr6:72166227-72166228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184667455	chr6:72166283-72166284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535162345	chr6:72166302-72166303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs852947	chr6:72166306-72166307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560926787	chr6:72166337-72166338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374865971	chr6:72166338-72166339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547206411	chr6:72166339-72166340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565510438	chr6:72166353-72166354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539724562	chr6:72166356-72166357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200013094	chr6:72166361-72166362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12193603	chr6:72166436-72166437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551345528	chr6:72166441-72166442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188593071	chr6:72166458-72166459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201196803	chr6:72166465-72166466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368039249	chr6:72166469-72166470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs852969	chr6:72166470-72166471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199762726	chr6:72166471-72166472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181405124	chr6:72166472-72166473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184920910	chr6:72166477-72166478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188981115	chr6:72166485-72166486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13196315	chr6:72166488-72166489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9355002	chr6:72166490-72166491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140391719	chr6:72166491-72166492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12193613	chr6:72166492-72166493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12193614	chr6:72166494-72166495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557953904	chr6:72166547-72166548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187036797	chr6:72166554-72166555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574164648	chr6:72166575-72166576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576234869	chr6:72166613-72166614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374822103	chr6:72166681-72166682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191017991	chr6:72166682-72166683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578082282	chr6:72166749-72166750	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:11 , 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

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