Variant report

Variant	esv12639
Chromosome Location	chr6:149241022-149242084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 83 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9766787	chr6:149241022-149241023	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9766788	chr6:149241036-149241037	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560024948	chr6:149241039-149241040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529001234	chr6:149241107-149241108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558479509	chr6:149241137-149241138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542329569	chr6:149241138-149241139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181302219	chr6:149241184-149241185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531291666	chr6:149241202-149241203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552420671	chr6:149241203-149241204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10712618	chr6:149241208-149241209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73003913	chr6:149241215-149241216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571965475	chr6:149241288-149241289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527905603	chr6:149241296-149241297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9766816	chr6:149241297-149241298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567722433	chr6:149241323-149241324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9767798	chr6:149241367-149241368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs80222251	chr6:149241435-149241436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556344275	chr6:149241444-149241445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186773427	chr6:149241487-149241488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75149097	chr6:149241522-149241523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557661181	chr6:149241531-149241532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535062046	chr6:149241547-149241548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115463980	chr6:149241564-149241565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77456857	chr6:149241583-149241584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575565093	chr6:149241595-149241596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190818754	chr6:149241599-149241600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548559178	chr6:149241602-149241603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12663239	chr6:149241641-149241642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78743906	chr6:149241661-149241662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78766054	chr6:149241683-149241684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386706890	chr6:149241687-149241688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116617929	chr6:149241688-149241689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536126847	chr6:149241702-149241703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114193176	chr6:149241720-149241721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528002312	chr6:149241725-149241726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386706891	chr6:149241743-149241744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188026906	chr6:149241745-149241746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371759047	chr6:149241761-149241762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149724377	chr6:149241790-149241791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs386706892	chr6:149241813-149241814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140332776	chr6:149241814-149241815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113653067	chr6:149241819-149241820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568986539	chr6:149241820-149241821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565908714	chr6:149241832-149241833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112557647	chr6:149241858-149241859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191119671	chr6:149241866-149241867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556337547	chr6:149241885-149241886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112557496	chr6:149241896-149241897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376042947	chr6:149242052-149242053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9498179	chr6:149242056-149242057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149209000-149247600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:149211600-149255400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:149226600-149252800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:149226600-149255600	Weak transcription	Ovary	ovary
5	chr6:149230800-149244600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:149231000-149244200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:149231000-149245400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:149234200-149244600	Weak transcription	Fetal Heart	heart
9	chr6:149234200-149245800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:149234400-149245000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:149235000-149244000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:149235400-149253000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:149235800-149245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:149237000-149244600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:149237400-149244400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:149237600-149245000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:149238000-149244800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:149238200-149244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:149238200-149245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:149238400-149252600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:149238800-149245200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:149239400-149244600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:149239600-149242200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:149239600-149245600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:149240200-149241200	Strong transcription	Primary B cells from cord blood	blood
26	chr6:149240600-149244000	Weak transcription	Lung	lung
27	chr6:149240600-149245200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:149240600-149245600	Weak transcription	Fetal Stomach	stomach
29	chr6:149240600-149247000	Weak transcription	Pancreas	Pancrea
30	chr6:149240600-149247200	Weak transcription	Dnd41	blood
31	chr6:149240600-149254600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:149240600-149256400	Weak transcription	Aorta	Aorta
33	chr6:149241200-149242800	Weak transcription	Primary B cells from cord blood	blood
34	chr6:149241600-149241800	Enhancers	Gastric	stomach
35	chr6:149241600-149243000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:149241800-149242400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:149241800-149243000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links