Variant report

Variant	nsv969307
Chromosome Location	chr6:64445020-64468321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:64462700..64465411-chr6:64467022..64468859,2	MCF-7	breast:
2	chr6:64462199..64464077-chr6:64470696..64472692,2	K562	blood:
3	chr6:64462700..64465411-chr6:64467022..64468859,2	MCF-7	breast:

Extended variants
information (count: 833 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551516554	chr6:64445024-64445025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149513447	chr6:64445033-64445034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566862248	chr6:64445059-64445060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534218608	chr6:64445081-64445082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116162428	chr6:64445147-64445148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566240295	chr6:64445222-64445223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567535985	chr6:64445246-64445247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373406340	chr6:64445247-64445248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184639696	chr6:64445263-64445264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376346767	chr6:64445302-64445303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145839739	chr6:64445335-64445336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114514074	chr6:64445350-64445351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554009722	chr6:64445353-64445354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576368862	chr6:64445372-64445373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138846201	chr6:64445386-64445387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527505992	chr6:64445387-64445388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148652739	chr6:64445400-64445401	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56885891	chr6:64445409-64445410	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71570650	chr6:64445411-64445412	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138724733	chr6:64445502-64445503	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189520045	chr6:64445561-64445562	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142674723	chr6:64445564-64445565	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529420001	chr6:64445566-64445567	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192170613	chr6:64445671-64445672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115418747	chr6:64445688-64445689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112165073	chr6:64445707-64445708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370937566	chr6:64445708-64445709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs116008955	chr6:64445827-64445828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147349571	chr6:64445832-64445833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551605209	chr6:64445928-64445929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566701136	chr6:64445983-64445984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528011521	chr6:64445992-64445993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35317225	chr6:64446015-64446016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185872033	chr6:64446022-64446023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552098272	chr6:64446038-64446039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537863054	chr6:64446039-64446040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550140077	chr6:64446058-64446059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571816675	chr6:64446061-64446062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189285097	chr6:64446065-64446066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554046549	chr6:64446078-64446079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572288588	chr6:64446157-64446158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536421081	chr6:64446228-64446229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554569653	chr6:64446283-64446284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576244758	chr6:64446317-64446318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543088393	chr6:64446329-64446330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564532924	chr6:64446354-64446355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576557365	chr6:64446356-64446357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540709018	chr6:64446357-64446358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558988159	chr6:64446378-64446379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527901052	chr6:64446412-64446413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64424200-64450400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:64436800-64445400	Weak transcription	Primary T cells from cord blood	blood
3	chr6:64437400-64459600	Weak transcription	Aorta	Aorta
4	chr6:64442000-64451800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:64442000-64451800	Weak transcription	Small Intestine	intestine
6	chr6:64442400-64445400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:64442400-64450200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:64443800-64449200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:64444600-64445200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:64444600-64445200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:64444600-64445200	Enhancers	HMEC	breast
12	chr6:64444600-64445200	Enhancers	NHEK	skin
13	chr6:64444600-64445600	Enhancers	Hela-S3	cervix
14	chr6:64444800-64448600	Weak transcription	HepG2	liver
15	chr6:64445200-64449200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:64445200-64450000	Weak transcription	HMEC	breast
17	chr6:64445200-64450200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:64445400-64445600	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr6:64445400-64445800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:64445600-64449200	Weak transcription	Hela-S3	cervix
21	chr6:64445800-64450000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:64448600-64449800	Enhancers	HepG2	liver
23	chr6:64448800-64449000	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:64448800-64449600	Enhancers	Liver	Liver
25	chr6:64448800-64450200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:64449000-64449200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr6:64449000-64449600	Enhancers	Fetal Intestine Large	intestine
28	chr6:64449000-64449600	Enhancers	Stomach Mucosa	stomach
29	chr6:64449200-64449400	Weak transcription	NHEK	skin
30	chr6:64449200-64449600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:64449200-64451200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:64449200-64452400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:64449200-64452600	Enhancers	Hela-S3	cervix
34	chr6:64449400-64452400	Enhancers	NHEK	skin
35	chr6:64449600-64450000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:64449600-64450600	Weak transcription	Stomach Mucosa	stomach
37	chr6:64449600-64452000	Weak transcription	Fetal Intestine Large	intestine
38	chr6:64449600-64453000	Weak transcription	Liver	Liver
39	chr6:64449800-64453400	Weak transcription	HepG2	liver
40	chr6:64450000-64450200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:64450000-64451000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:64450000-64451200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:64450000-64451400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:64450000-64452600	Enhancers	HMEC	breast
45	chr6:64450200-64450800	Enhancers	NHLF	lung
46	chr6:64450200-64451800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:64450200-64452400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:64450200-64452600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:64450400-64450800	Enhancers	Osteobl	bone
50	chr6:64450400-64451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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