Variant report

Variant	nsv1020922
Chromosome Location	chr6:78471920-78520696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 832 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:832 , 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	rs1483050	chr6:78471920-78471921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74441613	chr6:78471939-78471940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139306388	chr6:78471978-78471979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143230844	chr6:78472035-78472036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1483051	chr6:78472083-78472084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs182397056	chr6:78472092-78472093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577572322	chr6:78472171-78472172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529014589	chr6:78472174-78472175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556655646	chr6:78472176-78472177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548869952	chr6:78472190-78472191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1483052	chr6:78472191-78472192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534605449	chr6:78472324-78472325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551788945	chr6:78472409-78472410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571531832	chr6:78472411-78472412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537575673	chr6:78472457-78472458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557459199	chr6:78472473-78472474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574284839	chr6:78472530-78472531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536892240	chr6:78472589-78472590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186781740	chr6:78472656-78472657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367767555	chr6:78472662-78472663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190402193	chr6:78472699-78472700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147081246	chr6:78472704-78472705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545354438	chr6:78472706-78472707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573185317	chr6:78472729-78472730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373074869	chr6:78472736-78472737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73459422	chr6:78472756-78472757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558806577	chr6:78472819-78472820	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182533587	chr6:78472836-78472837	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs562998667	chr6:78472855-78472856	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs118181379	chr6:78472864-78472865	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150731073	chr6:78472896-78472897	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187528435	chr6:78472926-78472927	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528417205	chr6:78472935-78472936	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114057213	chr6:78473000-78473001	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571634066	chr6:78473054-78473055	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs9350725	chr6:78473066-78473067	ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562705175	chr6:78473083-78473084	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79116714	chr6:78473133-78473134	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529764688	chr6:78473166-78473167	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs10223549	chr6:78473248-78473249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79712897	chr6:78473268-78473269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6454002	chr6:78473274-78473275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9294082	chr6:78473517-78473518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116038125	chr6:78473519-78473520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79099733	chr6:78473534-78473535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543060823	chr6:78473539-78473540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149446254	chr6:78473548-78473549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573437597	chr6:78473554-78473555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542295466	chr6:78473555-78473556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376022028	chr6:78473571-78473572	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78469400-78472800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:78472600-78472800	Enhancers	Liver	Liver
3	chr6:78472800-78473200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:78472800-78473200	Flanking Active TSS	Liver	Liver
5	chr6:78473200-78474600	Enhancers	Liver	Liver
6	chr6:78475600-78477200	Weak transcription	Pancreas	Pancrea
7	chr6:78477200-78477400	ZNF genes & repeats	Pancreas	Pancrea
8	chr6:78477400-78478800	Weak transcription	Pancreas	Pancrea
9	chr6:78478800-78479600	Strong transcription	Pancreas	Pancrea
10	chr6:78479600-78481200	Weak transcription	Pancreas	Pancrea
11	chr6:78481200-78481600	Active TSS	Liver	Liver
12	chr6:78481600-78482800	Weak transcription	Liver	Liver
13	chr6:78482800-78483800	Enhancers	Liver	Liver
14	chr6:78483600-78484800	Enhancers	Dnd41	blood
15	chr6:78483800-78484400	Weak transcription	Liver	Liver
16	chr6:78484400-78484800	ZNF genes & repeats	Liver	Liver
17	chr6:78488600-78492200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:78489800-78490200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:78491600-78492000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:78491600-78492000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:78491600-78492000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:78495000-78495800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:78495200-78495600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:78496600-78497000	Enhancers	Liver	Liver
25	chr6:78496600-78497200	Enhancers	HepG2	liver
26	chr6:78497000-78497200	Flanking Active TSS	Liver	Liver
27	chr6:78497200-78497400	Active TSS	Liver	Liver
28	chr6:78504800-78505800	Active TSS	Liver	Liver
29	chr6:78505800-78506400	Weak transcription	Liver	Liver
30	chr6:78506400-78507400	Flanking Active TSS	Liver	Liver
31	chr6:78507000-78507400	Enhancers	HepG2	liver
32	chr6:78507400-78507600	Enhancers	Liver	Liver
33	chr6:78507400-78507600	Enhancers	Pancreas	Pancrea
34	chr6:78518600-78518800	Enhancers	Liver	Liver
35	chr6:78518800-78520000	Weak transcription	Liver	Liver
36	chr6:78519600-78520200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:78519600-78520400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:78519800-78520200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:78519800-78520200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:78519800-78520200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:78519800-78520400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:78519800-78520400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:78519800-78520400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:78520000-78520400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr6:78520000-78520400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:78520000-78521000	Enhancers	Liver	Liver
47	chr6:78520000-78521000	Enhancers	Fetal Intestine Large	intestine
48	chr6:78520200-78524000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:78520200-78524000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:78520400-78523800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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