Variant report

Variant	nsv969483
Chromosome Location	chr6:65964257-65990271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143863403	chr6:65969033-65969034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574365337	chr6:65969048-65969049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543365448	chr6:65969062-65969063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190600831	chr6:65969087-65969088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35799825	chr6:65969103-65969104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181687146	chr6:65969111-65969112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576864238	chr6:65969117-65969118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542249813	chr6:65969183-65969184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148618496	chr6:65969193-65969194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569159400	chr6:65969228-65969229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536372	chr6:65969239-65969240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371043867	chr6:65969261-65969262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528245602	chr6:65969297-65969298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551596885	chr6:65969307-65969308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369958243	chr6:65969329-65969330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572771528	chr6:65969337-65969338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187130613	chr6:65969345-65969346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115918586	chr6:65969376-65969377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530811855	chr6:65969449-65969450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74797972	chr6:65969460-65969461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370238828	chr6:65969465-65969466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373463683	chr6:65969523-65969524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148636102	chr6:65969533-65969534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368529833	chr6:65969603-65969604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115445599	chr6:65969621-65969622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs697304	chr6:65969644-65969645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73443111	chr6:65969661-65969662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534329553	chr6:65969668-65969669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12212937	chr6:65969675-65969676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs77317736	chr6:65969728-65969729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569531427	chr6:65969739-65969740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536688919	chr6:65969740-65969741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544045479	chr6:65969815-65969816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs72883272	chr6:65969854-65969855	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182451362	chr6:65969855-65969856	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73741283	chr6:65969870-65969871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs146165118	chr6:65969886-65969887	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs140185554	chr6:65969904-65969905	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187869406	chr6:65969963-65969964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189940294	chr6:65969979-65969980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182484276	chr6:65969993-65969994	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544312134	chr6:65969999-65970000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs552891336	chr6:65970029-65970030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143752370	chr6:65970035-65970036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533335775	chr6:65970078-65970079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151305903	chr6:65970084-65970085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377537683	chr6:65970085-65970086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572963810	chr6:65970094-65970095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140480632	chr6:65970105-65970106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549546148	chr6:65970137-65970138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65969000-65969800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:65969200-65969400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:65969200-65970600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:65969400-65970400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:65969400-65970800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:65969600-65969800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:65969600-65970400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:65969600-65971000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:65969800-65970000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:65970000-65970400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:65970000-65970400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:65970800-65971800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links