Variant report

Variant	esv3326004
Chromosome Location	chr6:78539833-78544331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 154 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs562061271	chr6:78539838-78539839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189745731	chr6:78539841-78539842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529975773	chr6:78539847-78539848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182742401	chr6:78539871-78539872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34990853	chr6:78540059-78540060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs36042013	chr6:78540089-78540090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185800153	chr6:78540105-78540106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528626907	chr6:78540165-78540166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377064513	chr6:78540169-78540170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570046795	chr6:78540253-78540254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535723836	chr6:78540255-78540256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546763432	chr6:78540268-78540269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62425062	chr6:78540310-78540311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146121941	chr6:78540324-78540325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190223561	chr6:78540333-78540334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374367147	chr6:78540364-78540365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546054789	chr6:78540418-78540419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140104618	chr6:78540451-78540452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548117611	chr6:78540452-78540453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144047005	chr6:78540507-78540508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550528485	chr6:78540510-78540511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569219961	chr6:78540536-78540537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561951072	chr6:78540548-78540549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527639769	chr6:78540550-78540551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541191784	chr6:78540594-78540595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564566659	chr6:78540612-78540613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183591604	chr6:78540646-78540647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188493396	chr6:78540682-78540683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569910204	chr6:78540701-78540702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529583271	chr6:78540709-78540710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113797534	chr6:78540710-78540711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567965891	chr6:78540726-78540727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533754141	chr6:78540746-78540747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1237568	chr6:78540789-78540790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553473726	chr6:78540803-78540804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1228146	chr6:78540826-78540827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117710197	chr6:78540839-78540840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555182895	chr6:78540890-78540891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556438694	chr6:78540973-78540974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12664392	chr6:78541004-78541005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542150531	chr6:78541048-78541049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555609999	chr6:78541109-78541110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144929383	chr6:78541184-78541185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374683101	chr6:78541188-78541189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71546073	chr6:78541224-78541225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147172040	chr6:78541225-78541226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541447711	chr6:78541226-78541227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397518242	chr6:78541242-78541243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115042398	chr6:78541243-78541244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9361295	chr6:78541267-78541268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
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
Breast cancer	16272173	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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78539800-78540000	Enhancers	Stomach Mucosa	stomach
2	chr6:78539800-78540200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:78540000-78544400	Weak transcription	Stomach Mucosa	stomach
4	chr6:78542400-78542800	Enhancers	HepG2	liver
5	chr6:78542800-78544200	Weak transcription	HepG2	liver
6	chr6:78544200-78544800	Enhancers	Fetal Intestine Small	intestine
7	chr6:78544200-78544800	Active TSS	HepG2	liver
8	chr6:78544200-78545000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr6:78544200-78547400	Enhancers	Fetal Intestine Large	intestine

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