Variant report

Variant	nsv886156
Chromosome Location	chr6:73578415-73603675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 859 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4706515	chr6:73578415-73578416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2226134	chr6:73578433-73578434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568520287	chr6:73578438-73578439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4566854	chr6:73578452-73578453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188893140	chr6:73578453-73578454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573552661	chr6:73578510-73578511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111977766	chr6:73578511-73578512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1891398	chr6:73578526-73578527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572676608	chr6:73578529-73578530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570343959	chr6:73578568-73578569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140090416	chr6:73578597-73578598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2211390	chr6:73578654-73578655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9446776	chr6:73578701-73578702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143957331	chr6:73578749-73578750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560954226	chr6:73578787-73578788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528355270	chr6:73578819-73578820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576150657	chr6:73578843-73578844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570910377	chr6:73578856-73578857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538202061	chr6:73578893-73578894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146456179	chr6:73578899-73578900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191856222	chr6:73578923-73578924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535989799	chr6:73578931-73578932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555125963	chr6:73578958-73578959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561772589	chr6:73578961-73578962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573514902	chr6:73578969-73578970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534490737	chr6:73579005-73579006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559245752	chr6:73579006-73579007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115118507	chr6:73579022-73579023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544560278	chr6:73579023-73579024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184745173	chr6:73579053-73579054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574854522	chr6:73579060-73579061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541993729	chr6:73579061-73579062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560740728	chr6:73579067-73579068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574273026	chr6:73579104-73579105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189510392	chr6:73579150-73579151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181018203	chr6:73579199-73579200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543270485	chr6:73579213-73579214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532291806	chr6:73579219-73579220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559530946	chr6:73579247-73579248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568791881	chr6:73579281-73579282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573054158	chr6:73579282-73579283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370890835	chr6:73579283-73579284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548024840	chr6:73579302-73579303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200268182	chr6:73579312-73579313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148388112	chr6:73579314-73579315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541201069	chr6:73579353-73579354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566574664	chr6:73579536-73579537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534347671	chr6:73579540-73579541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559210749	chr6:73579558-73579559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559321556	chr6:73579569-73579570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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	20409316	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73572000-73590200	Weak transcription	GM12878-XiMat	blood
2	chr6:73572600-73583800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:73575800-73595400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73576000-73579200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:73576600-73584400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:73578400-73584200	Weak transcription	Psoas Muscle	Psoas
7	chr6:73579000-73579600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:73579400-73580200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:73580000-73595400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:73581400-73582000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr6:73581800-73582200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:73584000-73585000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:73584400-73584600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:73585000-73592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:73590200-73591800	Strong transcription	GM12878-XiMat	blood
16	chr6:73591400-73595200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:73591800-73592400	Weak transcription	GM12878-XiMat	blood
18	chr6:73592400-73592800	ZNF genes & repeats	GM12878-XiMat	blood
19	chr6:73592600-73593000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:73593400-73595200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:73595200-73595800	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr6:73595200-73596200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:73595400-73595800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr6:73595400-73596200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:73596200-73603800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:73596800-73597200	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr6:73596800-73597200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:73597200-73601600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:73597200-73606800	Weak transcription	Primary B cells from cord blood	blood
30	chr6:73600000-73600400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:73600200-73601000	Enhancers	HSMM	muscle
32	chr6:73601000-73604000	Weak transcription	HSMM	muscle
33	chr6:73601600-73602200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:73602200-73616000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:73603400-73604600	Enhancers	Pancreatic Islets	Pancreatic Islet

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