Variant report

Variant	nsv886189
Chromosome Location	chr6:76908536-76953507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:49411019..49411554-chr6:76942200..76943162,2	MCF-7	breast:
2	chr6:76948100..76950177-chr6:76951701..76954019,2	MCF-7	breast:
3	chr6:76948100..76950177-chr6:76951701..76954019,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	chromatin interactions

Extended variants
information (count: 340 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:340 , 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	rs531923665	chr6:76929622-76929623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574597270	chr6:76929631-76929632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12527444	chr6:76929681-76929682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs375656000	chr6:76929720-76929721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73457969	chr6:76929791-76929792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528640022	chr6:76929792-76929793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138840020	chr6:76929829-76929830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546966938	chr6:76929882-76929883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202197528	chr6:76929894-76929895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200261818	chr6:76929896-76929897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200434115	chr6:76929897-76929898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs67348257	chr6:76929898-76929899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547796260	chr6:76929899-76929900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397826500	chr6:76929900-76929901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117705107	chr6:76929926-76929927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187415741	chr6:76929992-76929993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551286382	chr6:76930018-76930019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551276312	chr6:76930034-76930035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370017447	chr6:76930073-76930074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569478738	chr6:76930095-76930096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569790047	chr6:76930123-76930124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190633372	chr6:76930140-76930141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555664736	chr6:76930156-76930157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567434019	chr6:76930186-76930187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534334900	chr6:76930207-76930208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552525913	chr6:76930212-76930213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35794142	chr6:76930221-76930222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577322163	chr6:76930230-76930231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1486051	chr6:76930236-76930237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs556771996	chr6:76930250-76930251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576624999	chr6:76930259-76930260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543631048	chr6:76930264-76930265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141287363	chr6:76930319-76930320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79167884	chr6:76930327-76930328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73457971	chr6:76930329-76930330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183001567	chr6:76930356-76930357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373903381	chr6:76930492-76930493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541458942	chr6:76930493-76930494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138359263	chr6:76930498-76930499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552686185	chr6:76930540-76930541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117219557	chr6:76930576-76930577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376762491	chr6:76930672-76930673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35206850	chr6:76930703-76930704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149583969	chr6:76930730-76930731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570046647	chr6:76930745-76930746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112532902	chr6:76930769-76930770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141597413	chr6:76930774-76930775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35302132	chr6:76930779-76930780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60661808	chr6:76930801-76930802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9294011	chr6:76930833-76930834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:99)

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
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76929600-76930600	Enhancers	Fetal Brain Female	brain
2	chr6:76929800-76931400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:76930000-76930800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:76930000-76931000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:76930200-76930800	Enhancers	Brain Anterior Caudate	brain
6	chr6:76930200-76930800	Enhancers	Fetal Brain Male	brain
7	chr6:76930200-76931000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:76931000-76935000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:76934600-76935000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:76934600-76935200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:76934600-76935200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:76934600-76935200	Enhancers	Fetal Lung	lung
13	chr6:76935000-76936600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:76943800-76944200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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