Variant report

Variant	nsv886325
Chromosome Location	chr6:81777045-81848131
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:81314911..81315522-chr6:81785483..81786072,2	MCF-7	breast:
2	chr21:46338970..46339822-chr6:81843315..81843996,2	MCF-7	breast:

Extended variants
information (count: 1045 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1045 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9361722	chr6:81777045-81777046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78454998	chr6:81777109-81777110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550982278	chr6:81777162-81777163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76165436	chr6:81777251-81777252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146046422	chr6:81777281-81777282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571737228	chr6:81777368-81777369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187231127	chr6:81777389-81777390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140082677	chr6:81777453-81777454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376098603	chr6:81777492-81777493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368342344	chr6:81777523-81777524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143658957	chr6:81777560-81777561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150567914	chr6:81777583-81777584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529722660	chr6:81777605-81777606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190612910	chr6:81777629-81777630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139584324	chr6:81777638-81777639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9344093	chr6:81777640-81777641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528358107	chr6:81777641-81777642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547818181	chr6:81777642-81777643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570775456	chr6:81777648-81777649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181681228	chr6:81777703-81777704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9443865	chr6:81777747-81777748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185634402	chr6:81777831-81777832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535630390	chr6:81777889-81777890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190101898	chr6:81777905-81777906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs310389	chr6:81777917-81777918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs144559377	chr6:81777967-81777968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373993408	chr6:81777971-81777972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149715015	chr6:81778012-81778013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557472492	chr6:81778013-81778014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7774156	chr6:81778014-81778015	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543196364	chr6:81778044-81778045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570861376	chr6:81778070-81778071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6939709	chr6:81778128-81778129	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112129465	chr6:81778188-81778189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542867956	chr6:81778289-81778290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200507528	chr6:81778365-81778366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368935617	chr6:81778371-81778372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559546057	chr6:81778389-81778390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539044860	chr6:81778406-81778407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141432257	chr6:81778431-81778432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545283081	chr6:81778452-81778453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564361757	chr6:81778517-81778518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533344794	chr6:81778541-81778542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557357368	chr6:81778546-81778547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569408955	chr6:81778587-81778588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550034077	chr6:81778633-81778634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145029677	chr6:81778661-81778662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147551139	chr6:81778707-81778708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9341843	chr6:81778710-81778711	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183089697	chr6:81778743-81778744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81774000-81781000	Weak transcription	Aorta	Aorta
2	chr6:81774400-81778000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:81778000-81779200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:81778200-81779200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:81780800-81781600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:81781000-81781200	Enhancers	Aorta	Aorta
7	chr6:81785400-81785800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:81785400-81786200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:81785600-81785800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:81785600-81785800	Enhancers	Brain Cingulate Gyrus	brain
11	chr6:81785600-81786000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:81785600-81786200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:81785600-81786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:81785600-81786200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:81785600-81786200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:81785600-81786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:81785600-81786200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:81786200-81800200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:81794600-81795000	Enhancers	Fetal Heart	heart
20	chr6:81794600-81795200	Enhancers	Fetal Lung	lung
21	chr6:81795200-81796800	Weak transcription	Fetal Lung	lung
22	chr6:81796200-81797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:81796200-81797600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:81796400-81797600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:81796800-81797400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:81796800-81797400	Enhancers	Fetal Lung	lung
27	chr6:81796800-81797600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:81797000-81797200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:81797000-81797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:81797000-81797800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:81797200-81797400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:81797200-81797600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr6:81797200-81797600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:81797200-81797600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:81797200-81797600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:81797200-81797600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:81797200-81797600	Enhancers	Adipose Nuclei	Adipose
38	chr6:81797200-81797600	Enhancers	Fetal Stomach	stomach
39	chr6:81797200-81797600	Enhancers	Psoas Muscle	Psoas
40	chr6:81797400-81797600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:81797400-81802800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:81797600-81802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:81797600-81803000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:81797600-81803000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:81797800-81798200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:81797800-81802800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:81802600-81804200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:81802800-81803400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:81802800-81803600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:81803000-81803600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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