Variant report

Variant	nsv603473
Chromosome Location	chr6:66598249-66636204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545154268	chr6:66602617-66602618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs142153221	chr6:66602639-66602640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527734621	chr6:66602669-66602670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547397489	chr6:66602679-66602680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560993041	chr6:66602692-66602693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs9445616	chr6:66602722-66602723	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115115671	chr6:66602758-66602759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541667470	chr6:66602761-66602762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2351720	chr6:66602762-66602763	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs151178004	chr6:66602767-66602768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549618088	chr6:66602779-66602780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2351721	chr6:66602789-66602790	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2351722	chr6:66602809-66602810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533917669	chr6:66602836-66602837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2351723	chr6:66602838-66602839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139161057	chr6:66602850-66602851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566211704	chr6:66602863-66602864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536230789	chr6:66602871-66602872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561033618	chr6:66602926-66602927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2351724	chr6:66602952-66602953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73452394	chr6:66602967-66602968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544881590	chr6:66602999-66603000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564698880	chr6:66603004-66603005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6936593	chr6:66603071-66603072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574623705	chr6:66603176-66603177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9351534	chr6:66603183-66603184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78617592	chr6:66603197-66603198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146411104	chr6:66603200-66603201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16897399	chr6:66603217-66603218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563828021	chr6:66603220-66603221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181761139	chr6:66603257-66603258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9342517	chr6:66603293-66603294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9354330	chr6:66603308-66603309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34819170	chr6:66603316-66603317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535211005	chr6:66603317-66603318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547553162	chr6:66603329-66603330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9351535	chr6:66603336-66603337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9345715	chr6:66603371-66603372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376744952	chr6:66603372-66603373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140794354	chr6:66603391-66603392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187247296	chr6:66603398-66603399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190475552	chr6:66603467-66603468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9351536	chr6:66603468-66603469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558408379	chr6:66603480-66603481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs68154106	chr6:66603487-66603488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571846994	chr6:66603538-66603539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576152700	chr6:66603569-66603570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9453474	chr6:66603577-66603578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540793158	chr6:66603581-66603582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559302075	chr6:66603634-66603635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66602600-66602800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:66602800-66604600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:66609800-66610400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:66622600-66623000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:66633600-66634000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:66633600-66634000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:66634000-66634400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:66634000-66634800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:66634400-66636000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:66634800-66635000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:66635000-66635400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:66635400-66635800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:66635600-66636000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:66635600-66636000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:66635600-66636200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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