Variant report

Variant	nsv969422
Chromosome Location	chr6:81135489-81143409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 325 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:325 , 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	rs376182888	chr6:81135496-81135497	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191253475	chr6:81135520-81135521	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547730099	chr6:81135540-81135541	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370307960	chr6:81135615-81135616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576429962	chr6:81135665-81135666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543370832	chr6:81135689-81135690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs533402854	chr6:81135705-81135706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs6930112	chr6:81135793-81135794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570120892	chr6:81135806-81135807	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535981520	chr6:81135819-81135820	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs9448955	chr6:81135830-81135831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566128321	chr6:81135844-81135845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535010775	chr6:81135866-81135867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183801330	chr6:81135874-81135875	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189155938	chr6:81135875-81135876	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs577213776	chr6:81135923-81135924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545751729	chr6:81135930-81135931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556341289	chr6:81135946-81135947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576140580	chr6:81135956-81135957	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575442805	chr6:81135968-81135969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75043270	chr6:81135969-81135970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs117223913	chr6:81135978-81135979	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7749717	chr6:81135983-81135984	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs893126	chr6:81136008-81136009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559530873	chr6:81136021-81136022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143599184	chr6:81136040-81136041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376517508	chr6:81136068-81136069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148523337	chr6:81136071-81136072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533698887	chr6:81136078-81136079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114220080	chr6:81136092-81136093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563936922	chr6:81136119-81136120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184221715	chr6:81136141-81136142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370959774	chr6:81136166-81136167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190078585	chr6:81136240-81136241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79713484	chr6:81136283-81136284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6912433	chr6:81136297-81136298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9344001	chr6:81136301-81136302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537055527	chr6:81136313-81136314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571635211	chr6:81136331-81136332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564904449	chr6:81136356-81136357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548955922	chr6:81136409-81136410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539753596	chr6:81136421-81136422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567393673	chr6:81136510-81136511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182096219	chr6:81136527-81136528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552778361	chr6:81136538-81136539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186312267	chr6:81136549-81136550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191607607	chr6:81136585-81136586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75468174	chr6:81136608-81136609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571808935	chr6:81136616-81136617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540694751	chr6:81136701-81136702	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
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81132400-81135600	Weak transcription	Aorta	Aorta
2	chr6:81132400-81142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:81133400-81136000	Enhancers	HSMM	muscle
4	chr6:81133600-81136000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:81133800-81135800	Enhancers	NHLF	lung
6	chr6:81134200-81136000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:81134200-81136000	Enhancers	Osteobl	bone
8	chr6:81134400-81135800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:81134400-81135800	Enhancers	HMEC	breast
10	chr6:81134400-81136000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:81134600-81135800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:81134600-81135800	Enhancers	HSMMtube	muscle
13	chr6:81134800-81135800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:81134800-81135800	Enhancers	NH-A	brain
15	chr6:81135000-81135600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:81135000-81135800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:81135200-81135800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:81135400-81135600	Active TSS	Liver	Liver
19	chr6:81135400-81135800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:81135400-81136000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:81135400-81136000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr6:81135600-81135800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:81135800-81136000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:81135800-81136000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:81135800-81143400	Weak transcription	NHLF	lung
26	chr6:81135800-81147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:81136000-81136200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:81142400-81163800	Weak transcription	Ovary	ovary
29	chr6:81142800-81143200	Enhancers	HepG2	liver
30	chr6:81142800-81143400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:81142800-81143400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:81142800-81143600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:81142800-81143600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:81142800-81143600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:81142800-81143800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:81142800-81143800	Enhancers	Fetal Lung	lung
37	chr6:81143000-81143200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:81143000-81143200	Enhancers	Osteobl	bone
39	chr6:81143000-81143400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:81143000-81143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:81143000-81143400	Enhancers	Fetal Stomach	stomach
42	chr6:81143000-81143400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr6:81143000-81143600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:81143000-81145000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:81143200-81143400	Weak transcription	HepG2	liver
46	chr6:81143200-81143600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:81143200-81143600	Flanking Active TSS	Osteobl	bone
48	chr6:81143200-81143800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:81143200-81143800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:81143200-81144000	Enhancers	Muscle Satellite Cultured Cells	--

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