Variant report

Variant	esv3410896
Chromosome Location	chr6:81329433-81332556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 333 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:333 , 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	rs539482780	chr6:81329449-81329450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57562574	chr6:81329460-81329461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2496683	chr6:81329501-81329502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555549267	chr6:81329502-81329503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148121509	chr6:81329508-81329509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541346056	chr6:81329509-81329510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571078414	chr6:81329571-81329572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551462852	chr6:81329615-81329616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7774812	chr6:81329659-81329660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532928205	chr6:81329671-81329672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543081934	chr6:81329675-81329676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563396262	chr6:81329733-81329734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529041253	chr6:81329813-81329814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538422664	chr6:81329822-81329823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549160342	chr6:81329858-81329859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28524518	chr6:81329912-81329913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141883367	chr6:81329917-81329918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528368140	chr6:81329927-81329928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551669950	chr6:81329974-81329975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556868417	chr6:81329986-81329987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150775237	chr6:81329992-81329993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549226316	chr6:81330013-81330014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183935509	chr6:81330068-81330069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539817286	chr6:81330087-81330088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188664878	chr6:81330100-81330101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181272464	chr6:81330137-81330138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114689421	chr6:81330154-81330155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367564029	chr6:81330169-81330170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139131099	chr6:81330193-81330194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149536709	chr6:81330222-81330223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534938536	chr6:81330258-81330259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558411357	chr6:81330293-81330294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578262602	chr6:81330304-81330305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572482204	chr6:81330330-81330331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543398390	chr6:81330334-81330335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563284376	chr6:81330337-81330338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554501513	chr6:81330339-81330340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572860003	chr6:81330346-81330347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2444805	chr6:81330350-81330351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538406893	chr6:81330355-81330356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560010143	chr6:81330417-81330418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376999730	chr6:81330432-81330433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533594066	chr6:81330485-81330486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76697441	chr6:81330527-81330528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545605353	chr6:81330539-81330540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200279440	chr6:81330586-81330587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201515144	chr6:81330587-81330588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528272509	chr6:81330593-81330594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551701211	chr6:81330602-81330603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76493950	chr6:81330620-81330621	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81328600-81329600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:81329000-81329600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:81329000-81330000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:81329200-81332000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:81329600-81332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:81330000-81330200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:81331000-81332000	Weak transcription	Adipose Nuclei	Adipose
8	chr6:81332000-81332200	Enhancers	Adipose Nuclei	Adipose
9	chr6:81332000-81333000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:81332200-81332400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:81332200-81332600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:81332200-81332600	Enhancers	Lung	lung
13	chr6:81332200-81332800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:81332200-81332800	Enhancers	Liver	Liver
15	chr6:81332200-81332800	Enhancers	Left Ventricle	heart
16	chr6:81332200-81333000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:81332200-81333000	Enhancers	HMEC	breast
18	chr6:81332200-81333600	Enhancers	HSMMtube	muscle
19	chr6:81332200-81333800	Enhancers	HSMM	muscle
20	chr6:81332400-81332800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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