Variant report

Variant	nsv1034028
Chromosome Location	chr6:79183693-79206340
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	chr6:79198690..79201151-chr6:79205518..79207322,2	MCF-7	breast:
2	chr6:79198690..79201151-chr6:79205518..79207322,2	MCF-7	breast:

Extended variants
information (count: 653 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:653 , 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	rs535658593	chr6:79186603-79186604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559265608	chr6:79186628-79186629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528265075	chr6:79186669-79186670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs680200	chr6:79186672-79186673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78984797	chr6:79186692-79186693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62425503	chr6:79186698-79186699	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530999035	chr6:79186715-79186716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77457704	chr6:79186727-79186728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567628619	chr6:79186739-79186740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551823610	chr6:79186808-79186809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536284302	chr6:79186812-79186813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146557237	chr6:79186817-79186818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553699370	chr6:79186824-79186825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558110701	chr6:79186829-79186830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117739038	chr6:79186835-79186836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62425504	chr6:79186841-79186842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141280042	chr6:79186857-79186858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555899936	chr6:79186889-79186890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543485599	chr6:79186906-79186907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111722909	chr6:79186921-79186922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556816634	chr6:79186974-79186975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141293366	chr6:79187028-79187029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573576268	chr6:79187035-79187036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562578100	chr6:79187069-79187070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7738481	chr6:79187078-79187079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140154144	chr6:79187083-79187084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372250952	chr6:79187087-79187088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558924015	chr6:79187114-79187115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528326633	chr6:79187169-79187170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116721340	chr6:79187200-79187201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565862906	chr6:79187202-79187203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201729999	chr6:79187223-79187224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553258335	chr6:79187243-79187244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60458722	chr6:79187248-79187249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142272002	chr6:79187265-79187266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558608567	chr6:79187266-79187267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76979766	chr6:79187274-79187275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75711560	chr6:79187275-79187276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550747220	chr6:79187283-79187284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56031445	chr6:79187324-79187325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530645673	chr6:79187427-79187428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75723031	chr6:79187435-79187436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567695190	chr6:79187437-79187438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62425505	chr6:79187483-79187484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs67066140	chr6:79187488-79187489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181891843	chr6:79187496-79187497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369856990	chr6:79187554-79187555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566889367	chr6:79187567-79187568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575274205	chr6:79187580-79187581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539312799	chr6:79187664-79187665	Weak transcription	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79186600-79186800	Enhancers	HUVEC	blood vessel
2	chr6:79186800-79196800	Weak transcription	HUVEC	blood vessel
3	chr6:79191600-79191800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:79191800-79194800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:79192600-79193600	Enhancers	Brain Germinal Matrix	brain
6	chr6:79193000-79194400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:79193200-79195000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:79193200-79200000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:79194800-79195800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:79195000-79199000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:79195800-79202000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:79196800-79199200	Enhancers	HUVEC	blood vessel
13	chr6:79197000-79197200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:79197000-79197200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:79197000-79197400	Enhancers	HMEC	breast
16	chr6:79197000-79197600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:79197000-79197800	Enhancers	HSMM	muscle
18	chr6:79197000-79197800	Enhancers	NH-A	brain
19	chr6:79197200-79197400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:79197400-79199400	Weak transcription	HMEC	breast
21	chr6:79197400-79201800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:79197600-79201800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:79197600-79202000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:79197800-79199200	Weak transcription	NH-A	brain
25	chr6:79197800-79201800	Weak transcription	HSMM	muscle
26	chr6:79198600-79199000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:79199000-79199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:79199200-79199600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:79199200-79199600	Flanking Active TSS	HUVEC	blood vessel
30	chr6:79199200-79199600	Enhancers	NH-A	brain
31	chr6:79199400-79200000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:79199400-79200000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:79199400-79200000	Enhancers	HMEC	breast
34	chr6:79199600-79200000	Enhancers	Hela-S3	cervix
35	chr6:79199600-79201600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:79199600-79201800	Enhancers	HUVEC	blood vessel
37	chr6:79199600-79202000	Weak transcription	NH-A	brain
38	chr6:79199800-79200600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:79200000-79201000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:79200000-79202000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:79200000-79202000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:79200000-79202000	Weak transcription	HMEC	breast
43	chr6:79200600-79202000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:79201000-79202000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:79201600-79203000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:79201800-79202400	Enhancers	HSMMtube	muscle
47	chr6:79201800-79202600	Flanking Active TSS	HUVEC	blood vessel
48	chr6:79201800-79203000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:79201800-79203200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:79201800-79203200	Enhancers	HSMM	muscle

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