Variant report

Variant	nsv970338
Chromosome Location	chr6:76547672-76552731
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	chr6:76535425..76537050-chr6:76550391..76553381,2	MCF-7	breast:

Extended variants
information (count: 183 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs561726620	chr6:76547701-76547702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562560653	chr6:76547746-76547747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190527561	chr6:76547769-76547770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372708710	chr6:76547771-76547772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74929664	chr6:76547772-76547773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77083477	chr6:76547773-76547774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79221888	chr6:76547784-76547785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397797847	chr6:76547787-76547788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529795697	chr6:76547791-76547792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10943293	chr6:76547796-76547797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180814374	chr6:76547805-76547806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185204042	chr6:76547825-76547826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569642801	chr6:76547834-76547835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115616047	chr6:76547894-76547895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368540249	chr6:76547915-76547916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188343675	chr6:76547930-76547931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149129347	chr6:76547957-76547958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532364757	chr6:76547962-76547963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550609981	chr6:76547982-76547983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143398975	chr6:76548015-76548016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151314670	chr6:76548037-76548038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541047578	chr6:76548071-76548072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536381413	chr6:76548115-76548116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181116083	chr6:76548117-76548118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140603792	chr6:76548176-76548177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147099280	chr6:76548230-76548231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558900039	chr6:76548319-76548320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375716673	chr6:76548325-76548326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577249187	chr6:76548336-76548337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544180929	chr6:76548365-76548366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113038679	chr6:76548366-76548367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544222534	chr6:76548429-76548430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556220958	chr6:76548447-76548448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372715960	chr6:76548471-76548472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541573066	chr6:76548489-76548490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376706214	chr6:76548578-76548579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561488877	chr6:76548620-76548621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138467855	chr6:76548628-76548629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540468682	chr6:76548659-76548660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565235648	chr6:76548667-76548668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142762394	chr6:76548669-76548670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550546791	chr6:76548688-76548689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376083731	chr6:76548694-76548695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569175131	chr6:76548697-76548698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116765195	chr6:76548700-76548701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185709179	chr6:76548842-76548843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6924528	chr6:76548895-76548896	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200317058	chr6:76548919-76548920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533966093	chr6:76548969-76548970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552445809	chr6:76548976-76548977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76520200-76576400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:76521800-76571000	Weak transcription	Gastric	stomach
3	chr6:76522000-76558800	Weak transcription	Ovary	ovary
4	chr6:76522200-76554200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:76522600-76559000	Weak transcription	Fetal Kidney	kidney
6	chr6:76523800-76569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:76525600-76550200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:76527200-76558800	Weak transcription	Small Intestine	intestine
9	chr6:76528400-76550400	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:76528600-76548400	Weak transcription	NHLF	lung
11	chr6:76532800-76553000	Weak transcription	HepG2	liver
12	chr6:76533200-76559400	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:76534200-76572400	Weak transcription	Brain Anterior Caudate	brain
14	chr6:76534400-76556600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:76536200-76552000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:76538200-76559200	Weak transcription	Pancreas	Pancrea
17	chr6:76539400-76572400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:76540800-76552800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:76541000-76590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:76541200-76572600	Weak transcription	HSMMtube	muscle
21	chr6:76541400-76554600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:76541400-76558400	Weak transcription	Stomach Mucosa	stomach
23	chr6:76541400-76559200	Weak transcription	Osteobl	bone
24	chr6:76541400-76572400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:76541600-76548600	Weak transcription	Brain Germinal Matrix	brain
26	chr6:76541600-76551800	Weak transcription	HSMM	muscle
27	chr6:76541600-76553600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:76541600-76558800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:76541600-76559400	Weak transcription	NH-A	brain
30	chr6:76541800-76558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:76543000-76548200	Weak transcription	Esophagus	oesophagus
32	chr6:76543000-76551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:76543000-76558800	Weak transcription	Left Ventricle	heart
34	chr6:76543000-76568800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:76543000-76569200	Weak transcription	Lung	lung
36	chr6:76543000-76615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:76543200-76550000	Weak transcription	Brain Angular Gyrus	brain
38	chr6:76543200-76551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:76543200-76566600	Weak transcription	HMEC	breast
40	chr6:76543800-76549800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:76543800-76550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:76543800-76559400	Weak transcription	NHDF-Ad	bronchial
43	chr6:76544000-76550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:76544000-76550600	Weak transcription	Brain Substantia Nigra	brain
45	chr6:76544000-76583200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:76544200-76549800	Weak transcription	Placenta	Placenta
47	chr6:76544200-76550400	Weak transcription	HUVEC	blood vessel
48	chr6:76544200-76550400	Weak transcription	NHEK	skin
49	chr6:76544200-76551800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:76544200-76572600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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