Variant report

Variant	esv3339257
Chromosome Location	chr6:72163131-72166329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538161745	chr6:72163163-72163164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550410795	chr6:72163195-72163196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188957743	chr6:72163200-72163201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193152103	chr6:72163216-72163217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185258167	chr6:72163252-72163253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147373855	chr6:72163262-72163263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138048345	chr6:72163300-72163301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533837622	chr6:72163303-72163304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558808241	chr6:72163316-72163317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370407336	chr6:72163349-72163350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544187671	chr6:72163387-72163388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562791124	chr6:72163468-72163469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574785309	chr6:72163470-72163471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555568394	chr6:72163501-72163502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541797775	chr6:72163574-72163575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189835286	chr6:72163575-72163576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560244876	chr6:72163591-72163592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527805596	chr6:72163664-72163665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574023412	chr6:72163668-72163669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181615050	chr6:72163677-72163678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184057611	chr6:72163699-72163700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531926702	chr6:72163768-72163769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149508927	chr6:72163776-72163777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568716354	chr6:72163807-72163808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560468567	chr6:72163855-72163856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201206278	chr6:72163871-72163872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs852943	chr6:72163964-72163965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs71538490	chr6:72163988-72163989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200268333	chr6:72163990-72163991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116206558	chr6:72163991-72163992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114069844	chr6:72163992-72163993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35418536	chr6:72163994-72163995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533875877	chr6:72164006-72164007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558579421	chr6:72164021-72164022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188743620	chr6:72164032-72164033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528805485	chr6:72164044-72164045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76449321	chr6:72164202-72164203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556209309	chr6:72164271-72164272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371192029	chr6:72164302-72164303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574657877	chr6:72164343-72164344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541695702	chr6:72164376-72164377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs852944	chr6:72164390-72164391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs572070094	chr6:72164426-72164427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546343137	chr6:72164442-72164443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34326827	chr6:72164446-72164447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144185450	chr6:72164475-72164476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58258982	chr6:72164479-72164480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6938591	chr6:72164553-72164554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561626517	chr6:72164590-72164591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80011236	chr6:72164595-72164596	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:8 , 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	chr6:72162200-72163400	Enhancers	Fetal Lung	lung
3	chr6:72162400-72163200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:72162400-72163200	Enhancers	Fetal Brain Female	brain
5	chr6:72162400-72163200	Enhancers	Fetal Stomach	stomach
6	chr6:72162600-72163400	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:72162600-72167400	Weak transcription	HSMMtube	muscle
8	chr6:72162800-72170400	Weak transcription	NHDF-Ad	bronchial

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