Variant report

Variant	nsv886224
Chromosome Location	chr6:78226917-78309246
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	chr12:52445725..52446473-chr6:78274346..78274848,2	Hela-S3	cervix:
2	chr14:72967087..72967625-chr6:78275153..78275939,2	MCF-7	breast:

Extended variants
information (count: 480 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377592817	chr6:78227406-78227407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183194078	chr6:78227442-78227443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186544150	chr6:78227547-78227548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1343496	chr6:78227606-78227607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149382913	chr6:78227710-78227711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1213380	chr6:78227714-78227715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs547998691	chr6:78227726-78227727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560043675	chr6:78227748-78227749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1213381	chr6:78227749-78227750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs80202616	chr6:78227778-78227779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200428626	chr6:78227782-78227783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563994615	chr6:78227806-78227807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1213382	chr6:78227809-78227810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549935281	chr6:78227865-78227866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374638630	chr6:78227873-78227874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12524589	chr6:78227892-78227893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529148404	chr6:78227950-78227951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560948995	chr6:78227980-78227981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1213383	chr6:78227988-78227989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190756286	chr6:78227995-78227996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546893459	chr6:78228030-78228031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374904450	chr6:78228032-78228033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201037503	chr6:78228044-78228045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534675270	chr6:78228068-78228069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371300206	chr6:78228078-78228079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114634188	chr6:78228112-78228113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571583382	chr6:78228183-78228184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs922018	chr6:78228184-78228185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557074895	chr6:78228197-78228198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1458442	chr6:78238803-78238804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192974973	chr6:78238817-78238818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549441881	chr6:78238849-78238850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371046782	chr6:78238950-78238951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565865006	chr6:78238966-78238967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs55740034	chr6:78238984-78238985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562315387	chr6:78239031-78239032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115698247	chr6:78239055-78239056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529429893	chr6:78239146-78239147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577824050	chr6:78239184-78239185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373708150	chr6:78239197-78239198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1778230	chr6:78245014-78245015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141363059	chr6:78245023-78245024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181466922	chr6:78245031-78245032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs67912130	chr6:78245113-78245114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112106076	chr6:78245114-78245115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201470796	chr6:78245116-78245117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562525064	chr6:78245124-78245125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576171054	chr6:78245135-78245136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541952314	chr6:78245136-78245137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554520216	chr6:78245199-78245200	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78227400-78228200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:78238800-78239200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:78245000-78245600	Enhancers	Stomach Mucosa	stomach
4	chr6:78261400-78262000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:78263800-78264200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:78269600-78269800	Enhancers	Left Ventricle	heart
7	chr6:78271600-78272000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:78272000-78273000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:78273000-78273600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:78273200-78273600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:78273200-78273800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:78273800-78277800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:78277800-78278400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:78277800-78278600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:78278000-78278600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:78278200-78278600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:78283400-78284400	Enhancers	Fetal Heart	heart
18	chr6:78307200-78317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links