Variant report

Variant	esv3331418
Chromosome Location	chr6:81330458-81333006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533594066	chr6:81330485-81330486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76697441	chr6:81330527-81330528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545605353	chr6:81330539-81330540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200279440	chr6:81330586-81330587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201515144	chr6:81330587-81330588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528272509	chr6:81330593-81330594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551701211	chr6:81330602-81330603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76493950	chr6:81330620-81330621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565175534	chr6:81330656-81330657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530723125	chr6:81330674-81330675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550100927	chr6:81330677-81330678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374283690	chr6:81330711-81330712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374658748	chr6:81330715-81330716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538377966	chr6:81330716-81330717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112911458	chr6:81330717-81330718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111706463	chr6:81330718-81330719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112650396	chr6:81330719-81330720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199585123	chr6:81330721-81330722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368318019	chr6:81330723-81330724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377720991	chr6:81330735-81330736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558193291	chr6:81330737-81330738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67866859	chr6:81330738-81330739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9361628	chr6:81330740-81330741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372529532	chr6:81330744-81330745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569734531	chr6:81330762-81330763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72416264	chr6:81330769-81330770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535519004	chr6:81330776-81330777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373968126	chr6:81330782-81330783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28650338	chr6:81330785-81330786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71539134	chr6:81330798-81330799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72112473	chr6:81330799-81330800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368117171	chr6:81330809-81330810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376668129	chr6:81330813-81330814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565867007	chr6:81330814-81330815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535220389	chr6:81330815-81330816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558110250	chr6:81330817-81330818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9344025	chr6:81330821-81330822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28665428	chr6:81330823-81330824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371230775	chr6:81330824-81330825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372097327	chr6:81330826-81330827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113848771	chr6:81330831-81330832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376384570	chr6:81330834-81330835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373835573	chr6:81330843-81330844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368891755	chr6:81330857-81330858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531235824	chr6:81330862-81330863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537347871	chr6:81330878-81330879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556969670	chr6:81330880-81330881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372203538	chr6:81330881-81330882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376815504	chr6:81330883-81330884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374670150	chr6:81330884-81330885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81329200-81332000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81329600-81332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:81331000-81332000	Weak transcription	Adipose Nuclei	Adipose
4	chr6:81332000-81332200	Enhancers	Adipose Nuclei	Adipose
5	chr6:81332000-81333000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:81332200-81332400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:81332200-81332600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:81332200-81332600	Enhancers	Lung	lung
9	chr6:81332200-81332800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr6:81332200-81332800	Enhancers	Liver	Liver
11	chr6:81332200-81332800	Enhancers	Left Ventricle	heart
12	chr6:81332200-81333000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:81332200-81333000	Enhancers	HMEC	breast
14	chr6:81332200-81333600	Enhancers	HSMMtube	muscle
15	chr6:81332200-81333800	Enhancers	HSMM	muscle
16	chr6:81332400-81332800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:81332800-81333000	Active TSS	Adipose Nuclei	Adipose
18	chr6:81332800-81333000	Enhancers	Brain Anterior Caudate	brain
19	chr6:81333000-81348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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