Variant report

Variant	esv2618363
Chromosome Location	chr6:76578343-76579920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535669754	chr6:76578385-76578386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553636769	chr6:76578432-76578433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572026973	chr6:76578459-76578460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190581151	chr6:76578478-76578479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563742482	chr6:76578519-76578520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555385130	chr6:76578538-76578539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576047741	chr6:76578549-76578550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138158710	chr6:76578559-76578560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561848937	chr6:76578608-76578609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530215610	chr6:76578640-76578641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3798436	chr6:76578655-76578656	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183140928	chr6:76578663-76578664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3798435	chr6:76578666-76578667	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs71544072	chr6:76578787-76578788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565851741	chr6:76578813-76578814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187599966	chr6:76578860-76578861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369981334	chr6:76578926-76578927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552561181	chr6:76578942-76578943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75579639	chr6:76578949-76578950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141177941	chr6:76578951-76578952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557899494	chr6:76578956-76578957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549987240	chr6:76578980-76578981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144981401	chr6:76579033-76579034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139036265	chr6:76579071-76579072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553574754	chr6:76579098-76579099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571963618	chr6:76579119-76579120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539358415	chr6:76579155-76579156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561955515	chr6:76579167-76579168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557677564	chr6:76579169-76579170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560477917	chr6:76579173-76579174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13194557	chr6:76579177-76579178	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543439035	chr6:76579197-76579198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534019941	chr6:76579215-76579216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192415722	chr6:76579219-76579220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377064927	chr6:76579223-76579224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144800486	chr6:76579273-76579274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368899520	chr6:76579293-76579294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542393355	chr6:76579389-76579390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373409552	chr6:76579458-76579459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9360950	chr6:76579477-76579478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569013198	chr6:76579479-76579480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527926723	chr6:76579584-76579585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552903570	chr6:76579602-76579603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564832729	chr6:76579613-76579614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574030876	chr6:76579626-76579627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372223188	chr6:76579631-76579632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531593821	chr6:76579655-76579656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183404261	chr6:76579692-76579693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574426229	chr6:76579701-76579702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541640445	chr6:76579723-76579724	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76541000-76590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:76543000-76615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:76544000-76583200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:76544400-76603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:76552200-76592400	Weak transcription	HSMM	muscle
6	chr6:76552600-76592400	Weak transcription	Psoas Muscle	Psoas
7	chr6:76560000-76585800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:76560400-76583200	Weak transcription	Osteobl	bone
9	chr6:76562400-76599800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:76562800-76583400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:76563000-76580200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:76563000-76585400	Weak transcription	NHDF-Ad	bronchial
13	chr6:76563400-76602800	Weak transcription	Small Intestine	intestine
14	chr6:76566200-76604600	Weak transcription	Right Ventricle	heart
15	chr6:76567000-76604400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:76567600-76584000	Weak transcription	Fetal Heart	heart
17	chr6:76567600-76598600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:76567600-76604200	Weak transcription	NHLF	lung
19	chr6:76570400-76580400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:76571200-76592400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:76571400-76582200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:76571400-76583400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:76573000-76583400	Weak transcription	Aorta	Aorta
24	chr6:76573000-76584000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:76573000-76597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:76573000-76624000	Weak transcription	Placenta	Placenta
27	chr6:76573200-76604200	Weak transcription	Colonic Mucosa	Colon
28	chr6:76573400-76592800	Weak transcription	Stomach Mucosa	stomach
29	chr6:76573600-76583000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:76573600-76606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:76573800-76583400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:76573800-76607200	Weak transcription	Gastric	stomach
33	chr6:76573800-76608400	Weak transcription	Esophagus	oesophagus
34	chr6:76574000-76583400	Weak transcription	NH-A	brain
35	chr6:76574000-76584600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:76574200-76583200	Weak transcription	Brain Angular Gyrus	brain
37	chr6:76574400-76583000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:76574400-76583200	Weak transcription	Ovary	ovary
39	chr6:76574400-76583400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:76574400-76632600	Weak transcription	Spleen	Spleen
41	chr6:76574800-76582800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:76574800-76583400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:76575400-76583400	Weak transcription	Fetal Stomach	stomach
44	chr6:76575600-76586400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:76576000-76604000	Weak transcription	Fetal Brain Female	brain
46	chr6:76576600-76582800	Weak transcription	HSMMtube	muscle
47	chr6:76576600-76583400	Weak transcription	Brain Substantia Nigra	brain
48	chr6:76576600-76584200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:76577200-76580000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:76577200-76581000	Weak transcription	Lung	lung

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