Variant report

Variant	nsv1015520
Chromosome Location	chr6:81309213-81374699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:81047806..81048624-chr6:81314824..81315362,2	MCF-7	breast:
2	chr6:81314911..81315522-chr6:81785483..81786072,2	MCF-7	breast:

Extended variants
information (count: 2786 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:2786 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546726123	chr6:81309241-81309242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566620463	chr6:81309244-81309245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538475049	chr6:81309254-81309255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552411674	chr6:81309255-81309256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187940033	chr6:81309302-81309303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116225458	chr6:81309321-81309322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193088728	chr6:81309326-81309327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573708510	chr6:81309356-81309357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148613790	chr6:81309367-81309368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553073987	chr6:81309386-81309387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74685425	chr6:81309389-81309390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545256013	chr6:81309424-81309425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141171262	chr6:81309443-81309444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11968846	chr6:81309481-81309482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147351345	chr6:81309517-81309518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538485767	chr6:81309541-81309542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560826008	chr6:81309605-81309606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183558623	chr6:81309610-81309611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546689044	chr6:81309641-81309642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11968922	chr6:81309643-81309644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573618027	chr6:81309655-81309656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542477561	chr6:81309662-81309663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552062818	chr6:81309671-81309672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6926124	chr6:81309680-81309681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560953090	chr6:81309701-81309702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188752257	chr6:81309735-81309736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139587990	chr6:81309764-81309765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76281751	chr6:81309769-81309770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9449092	chr6:81309771-81309772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145111491	chr6:81309795-81309796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72905925	chr6:81309799-81309800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539170088	chr6:81309802-81309803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531942618	chr6:81309807-81309808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564867520	chr6:81309850-81309851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558875024	chr6:81309852-81309853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140889800	chr6:81309943-81309944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149852134	chr6:81309950-81309951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555320751	chr6:81309961-81309962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16892000	chr6:81309967-81309968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs540215691	chr6:81309972-81309973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560120102	chr6:81310005-81310006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532101292	chr6:81310030-81310031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545664693	chr6:81310041-81310042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545896000	chr6:81310110-81310111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565538820	chr6:81310197-81310198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559128212	chr6:81310248-81310249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528009029	chr6:81310265-81310266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372726432	chr6:81310293-81310294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192583794	chr6:81310304-81310305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116628276	chr6:81310307-81310308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Obesity	21131291	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81294800-81317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81314000-81314200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:81314200-81314400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:81314400-81314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:81314600-81315800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:81314800-81315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:81314800-81315000	Enhancers	HSMM	muscle
8	chr6:81314800-81315000	Enhancers	Osteobl	bone
9	chr6:81314800-81315200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:81314800-81315200	Enhancers	Hela-S3	cervix
11	chr6:81314800-81315200	Enhancers	NHEK	skin
12	chr6:81314800-81315400	Enhancers	NHLF	lung
13	chr6:81314800-81315600	Enhancers	HMEC	breast
14	chr6:81314800-81316200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:81314800-81317800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:81314800-81321000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:81315000-81316000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:81315000-81317000	Weak transcription	HSMM	muscle
19	chr6:81315200-81317000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:81315200-81317400	Weak transcription	NHEK	skin
21	chr6:81315200-81317800	Weak transcription	Hela-S3	cervix
22	chr6:81315400-81317000	Weak transcription	NHLF	lung
23	chr6:81315600-81317000	Weak transcription	HMEC	breast
24	chr6:81315800-81316800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:81316000-81316200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:81316200-81316600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:81316200-81317000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:81316600-81316800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:81316800-81317000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:81316800-81317800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:81316800-81318600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:81317000-81317600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:81317000-81317800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:81317000-81317800	Enhancers	Osteobl	bone
35	chr6:81317000-81318400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:81317000-81318400	Enhancers	Adipose Nuclei	Adipose
37	chr6:81317000-81318600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:81317000-81318800	Enhancers	NHLF	lung
39	chr6:81317000-81319000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:81317000-81319000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:81317000-81321000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:81317000-81321000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:81317000-81321000	Enhancers	HMEC	breast
44	chr6:81317000-81321000	Enhancers	HSMM	muscle
45	chr6:81317000-81321200	Enhancers	NHDF-Ad	bronchial
46	chr6:81317200-81318400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr6:81317200-81319000	Enhancers	Colon Smooth Muscle	Colon
48	chr6:81317400-81317800	Enhancers	HSMMtube	muscle
49	chr6:81317400-81318000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:81317400-81318200	Enhancers	Liver	Liver

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