Variant report

Variant	nsv934035
Chromosome Location	chr6:70948905-70950105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:70947947..70949815-chr6:70963737..70966272,2	K562	blood:
2	chr6:70947725..70949601-chr6:71103276..71104897,2	K562	blood:
3	chr6:70947725..70951615-chr6:71103397..71106109,3	K562	blood:

Variant related genes	Relation type
ENSG00000112280	chromatin interactions
ENSG00000237643	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377300717	chr6:70948917-70948918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs9446213	chr6:70949019-70949020	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369671433	chr6:70949040-70949041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572244113	chr6:70949066-70949067	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs13216129	chr6:70949079-70949080	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs45464198	chr6:70949107-70949108	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532577708	chr6:70949108-70949109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140683617	chr6:70949111-70949112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552183397	chr6:70949175-70949176	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79974156	chr6:70949197-70949198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs1200579	chr6:70949325-70949326	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548379132	chr6:70949332-70949333	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568267638	chr6:70949389-70949390	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12194189	chr6:70949399-70949400	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557058174	chr6:70949411-70949412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1200580	chr6:70949452-70949453	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9446214	chr6:70949480-70949481	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9455012	chr6:70949487-70949488	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs3806074	chr6:70949678-70949679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541346456	chr6:70949679-70949680	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554695233	chr6:70949695-70949696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574701282	chr6:70949714-70949715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543539439	chr6:70949737-70949738	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374021030	chr6:70949741-70949742	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs6914595	chr6:70949744-70949745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12194415	chr6:70949751-70949752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577447138	chr6:70949772-70949773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531099084	chr6:70949788-70949789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549320890	chr6:70949817-70949818	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs3806075	chr6:70949899-70949900	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144497328	chr6:70949903-70949904	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77466834	chr6:70949905-70949906	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528625371	chr6:70949971-70949972	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78522464	chr6:70950024-70950025	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568253177	chr6:70950029-70950030	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530773555	chr6:70950036-70950037	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs3828778	chr6:70950045-70950046	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183410424	chr6:70950064-70950065	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs17692395	chr6:70950065-70950066	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551675225	chr6:70950104-70950105	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70931400-70961400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:70932600-70951800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:70933000-70951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:70934400-70951600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:70939000-70951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:70947000-70950400	Weak transcription	Fetal Stomach	stomach
7	chr6:70949600-70951000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:70949800-70950000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr6:70949800-70950600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links