Variant report

Variant	esv3422112
Chromosome Location	chr6:81331083-81332431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs369581027	chr6:81331092-81331093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369380506	chr6:81331098-81331099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528559213	chr6:81331100-81331101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372789173	chr6:81331102-81331103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551601747	chr6:81331105-81331106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375003576	chr6:81331106-81331107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546715202	chr6:81331114-81331115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368980972	chr6:81331120-81331121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373182016	chr6:81331126-81331127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376194510	chr6:81331128-81331129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371374076	chr6:81331132-81331133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187397409	chr6:81331140-81331141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191795297	chr6:81331152-81331153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111218802	chr6:81331154-81331155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201457427	chr6:81331160-81331161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558345129	chr6:81331161-81331162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575341618	chr6:81331162-81331163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543996064	chr6:81331163-81331164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554355721	chr6:81331164-81331165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200039407	chr6:81331166-81331167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540160330	chr6:81331174-81331175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544054993	chr6:81331177-81331178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111218739	chr6:81331181-81331182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138122239	chr6:81331188-81331189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62647355	chr6:81331194-81331195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201645377	chr6:81331200-81331201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111218678	chr6:81331210-81331211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373178238	chr6:81331211-81331212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202029126	chr6:81331212-81331213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199568406	chr6:81331215-81331216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200614501	chr6:81331216-81331217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545413405	chr6:81331222-81331223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565232712	chr6:81331226-81331227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531036146	chr6:81331227-81331228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142603513	chr6:81331228-81331229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201832321	chr6:81331239-81331240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200108427	chr6:81331240-81331241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199702530	chr6:81331241-81331242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111218729	chr6:81331242-81331243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551146337	chr6:81331245-81331246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561487689	chr6:81331252-81331253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145999260	chr6:81331257-81331258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139985848	chr6:81331270-81331271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567178399	chr6:81331273-81331274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183570514	chr6:81331293-81331294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62647356	chr6:81331296-81331297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560781287	chr6:81331297-81331298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538249730	chr6:81331299-81331300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187082269	chr6:81331309-81331310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529337069	chr6:81331310-81331311	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:16 , 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

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