Variant report

Variant	nsv933587
Chromosome Location	chr6:76545612-76550368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs200288802	chr6:76545620-76545621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373094034	chr6:76545651-76545652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188959117	chr6:76545683-76545684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12210963	chr6:76545684-76545685	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs369806112	chr6:76545686-76545687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373303642	chr6:76545695-76545696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377501057	chr6:76545699-76545700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200958076	chr6:76545700-76545701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563180638	chr6:76545701-76545702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373111829	chr6:76545703-76545704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575165491	chr6:76545754-76545755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542921882	chr6:76545757-76545758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576127297	chr6:76545769-76545770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77818820	chr6:76545858-76545859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80173195	chr6:76545863-76545864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75803418	chr6:76545885-76545886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78713878	chr6:76545888-76545889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75074185	chr6:76545889-76545890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74324831	chr6:76545890-76545891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192681300	chr6:76545931-76545932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551982543	chr6:76545945-76545946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536443816	chr6:76545947-76545948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570284292	chr6:76545971-76545972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544043969	chr6:76546001-76546002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367688944	chr6:76546067-76546068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549662484	chr6:76546073-76546074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562253661	chr6:76546074-76546075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370523484	chr6:76546124-76546125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12212604	chr6:76546148-76546149	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535016521	chr6:76546161-76546162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553135868	chr6:76546196-76546197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577702897	chr6:76546213-76546214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538778987	chr6:76546216-76546217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575271701	chr6:76546304-76546305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556700814	chr6:76546424-76546425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368535772	chr6:76546444-76546445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542509018	chr6:76546453-76546454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561231313	chr6:76546491-76546492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573094175	chr6:76546547-76546548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540208672	chr6:76546548-76546549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149763566	chr6:76546576-76546577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117664836	chr6:76546589-76546590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146722512	chr6:76546590-76546591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550711276	chr6:76546659-76546660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111653842	chr6:76546786-76546787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186915047	chr6:76546813-76546814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34486890	chr6:76546846-76546847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376740588	chr6:76546873-76546874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567942010	chr6:76546961-76546962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191556216	chr6:76546987-76546988	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:118 , 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	chr6:76521400-76546200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:76521400-76547600	Weak transcription	Colonic Mucosa	Colon
4	chr6:76521800-76571000	Weak transcription	Gastric	stomach
5	chr6:76522000-76558800	Weak transcription	Ovary	ovary
6	chr6:76522200-76554200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:76522600-76559000	Weak transcription	Fetal Kidney	kidney
8	chr6:76523800-76569000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:76525600-76550200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:76527200-76558800	Weak transcription	Small Intestine	intestine
11	chr6:76528400-76550400	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:76528600-76548400	Weak transcription	NHLF	lung
13	chr6:76532800-76553000	Weak transcription	HepG2	liver
14	chr6:76533200-76559400	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:76534200-76572400	Weak transcription	Brain Anterior Caudate	brain
16	chr6:76534400-76556600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:76536200-76552000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:76538200-76559200	Weak transcription	Pancreas	Pancrea
19	chr6:76539400-76572400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:76540800-76552800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:76541000-76590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:76541200-76572600	Weak transcription	HSMMtube	muscle
23	chr6:76541400-76554600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:76541400-76558400	Weak transcription	Stomach Mucosa	stomach
25	chr6:76541400-76559200	Weak transcription	Osteobl	bone
26	chr6:76541400-76572400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:76541600-76546000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:76541600-76547400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:76541600-76548600	Weak transcription	Brain Germinal Matrix	brain
30	chr6:76541600-76551800	Weak transcription	HSMM	muscle
31	chr6:76541600-76553600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:76541600-76558800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:76541600-76559400	Weak transcription	NH-A	brain
34	chr6:76541800-76558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:76542600-76545800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:76542600-76546800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:76543000-76548200	Weak transcription	Esophagus	oesophagus
38	chr6:76543000-76551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:76543000-76558800	Weak transcription	Left Ventricle	heart
40	chr6:76543000-76568800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:76543000-76569200	Weak transcription	Lung	lung
42	chr6:76543000-76615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:76543200-76546000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:76543200-76550000	Weak transcription	Brain Angular Gyrus	brain
45	chr6:76543200-76551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:76543200-76566600	Weak transcription	HMEC	breast
47	chr6:76543400-76546400	Weak transcription	Hela-S3	cervix
48	chr6:76543800-76549800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:76543800-76550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:76543800-76559400	Weak transcription	NHDF-Ad	bronchial

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