Variant report

Variant	nsv886299
Chromosome Location	chr6:79129963-79174637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79145754..79146269-chr6:79223569..79224247,2	MCF-7	breast:
2	chr6:79150451..79152347-chr6:79160365..79162316,2	MCF-7	breast:
3	chr6:79159177..79161505-chr6:79223349..79225397,2	MCF-7	breast:
4	chr6:78884216..78887143-chr6:79140755..79143140,2	K562	blood:
5	chr6:79150451..79152347-chr6:79160365..79162316,2	MCF-7	breast:

Extended variants
information (count: 699 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10455346	chr6:79138641-79138642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540103119	chr6:79138731-79138732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377529624	chr6:79138765-79138766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144386693	chr6:79139009-79139010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573002699	chr6:79139011-79139012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553708922	chr6:79139047-79139048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576813242	chr6:79139076-79139077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537209740	chr6:79139082-79139083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183018835	chr6:79139118-79139119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185901117	chr6:79139140-79139141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531505932	chr6:79139145-79139146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190227047	chr6:79139153-79139154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528160000	chr6:79139163-79139164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370801224	chr6:79139167-79139168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182571885	chr6:79139172-79139173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527769314	chr6:79139190-79139191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374041486	chr6:79139235-79139236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371685337	chr6:79139236-79139237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547601963	chr6:79139240-79139241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372044273	chr6:79139350-79139351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570822089	chr6:79139370-79139371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533211278	chr6:79139380-79139381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533105829	chr6:79139392-79139393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9448406	chr6:79139393-79139394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570314562	chr6:79139412-79139413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28442292	chr6:79139413-79139414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536176270	chr6:79139499-79139500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555961264	chr6:79139528-79139529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566172158	chr6:79139530-79139531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76625569	chr6:79139572-79139573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553630073	chr6:79139613-79139614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142264484	chr6:79139653-79139654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151251985	chr6:79139654-79139655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555762644	chr6:79139675-79139676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575898495	chr6:79139681-79139682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12199172	chr6:79139686-79139687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186847294	chr6:79139700-79139701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527538273	chr6:79139766-79139767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76144647	chr6:79139812-79139813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139945735	chr6:79139836-79139837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115645105	chr6:79139861-79139862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192098721	chr6:79139916-79139917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145454191	chr6:79139941-79139942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529591238	chr6:79139946-79139947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372495661	chr6:79139950-79139951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183414000	chr6:79140060-79140061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376754897	chr6:79140085-79140086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147813690	chr6:79140115-79140116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141324001	chr6:79140116-79140117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79210212	chr6:79140127-79140128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79138600-79138800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:79139000-79145800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:79139800-79140200	Enhancers	Fetal Brain Male	brain
4	chr6:79140200-79142000	Weak transcription	Fetal Brain Male	brain
5	chr6:79140800-79142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:79142000-79142200	Enhancers	Fetal Brain Male	brain
7	chr6:79144200-79145000	Enhancers	Fetal Brain Female	brain
8	chr6:79145800-79146200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:79165000-79173400	Weak transcription	HUVEC	blood vessel
10	chr6:79169400-79169800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:79170200-79171000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:79170400-79171000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:79170600-79170800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:79171000-79172000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:79172000-79172200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:79172200-79172600	Enhancers	HMEC	breast

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