Variant report

Variant	esv3354066
Chromosome Location	chr6:145144859-145146707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542986389	chr6:145144862-145144863	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561025294	chr6:145144880-145144881	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182933288	chr6:145144906-145144907	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4895656	chr6:145144923-145144924	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188041249	chr6:145144937-145144938	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61088924	chr6:145144980-145144981	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117083546	chr6:145145006-145145007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566756438	chr6:145145012-145145013	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527870040	chr6:145145018-145145019	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549697355	chr6:145145080-145145081	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567874671	chr6:145145149-145145150	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77735752	chr6:145145151-145145152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569255740	chr6:145145162-145145163	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74887047	chr6:145145267-145145268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370037212	chr6:145145311-145145312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539172351	chr6:145145344-145145345	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554299740	chr6:145145395-145145396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572319135	chr6:145145401-145145402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542849544	chr6:145145442-145145443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554705876	chr6:145145494-145145495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566251810	chr6:145145495-145145496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543671430	chr6:145145499-145145500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377412674	chr6:145145555-145145556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368598189	chr6:145145561-145145562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372735109	chr6:145145563-145145564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374391772	chr6:145145565-145145566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201889379	chr6:145145567-145145568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71733758	chr6:145145568-145145569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9390231	chr6:145145569-145145570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564754054	chr6:145145579-145145580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370770056	chr6:145145585-145145586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373506553	chr6:145145608-145145609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376508790	chr6:145145609-145145610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112224385	chr6:145145615-145145616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201857008	chr6:145145635-145145636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28589712	chr6:145145655-145145656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11155378	chr6:145145668-145145669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11155379	chr6:145145677-145145678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201708712	chr6:145145683-145145684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66795017	chr6:145145690-145145691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11155380	chr6:145145692-145145693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9497094	chr6:145145693-145145694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370361983	chr6:145145705-145145706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201351463	chr6:145145707-145145708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201972641	chr6:145145708-145145709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28439888	chr6:145145712-145145713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71028314	chr6:145145715-145145716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9484908	chr6:145145718-145145719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531965083	chr6:145145736-145145737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28679757	chr6:145145738-145145739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145084000-145155800	Weak transcription	Right Ventricle	heart
2	chr6:145091000-145145000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:145099600-145165800	Weak transcription	Small Intestine	intestine
4	chr6:145100400-145145000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:145115200-145155000	Weak transcription	Esophagus	oesophagus
6	chr6:145115800-145156600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:145116000-145148600	Weak transcription	Placenta	Placenta
8	chr6:145116000-145154800	Weak transcription	Spleen	Spleen
9	chr6:145116000-145155800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:145116200-145154400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:145116400-145155600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:145116400-145169000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:145117400-145175200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:145117600-145148400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:145119200-145155800	Weak transcription	Pancreas	Pancrea
16	chr6:145120000-145145800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:145120000-145148800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:145120000-145155000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:145120200-145145800	Weak transcription	Fetal Intestine Small	intestine
20	chr6:145120200-145145800	Weak transcription	Fetal Stomach	stomach
21	chr6:145120200-145148400	Weak transcription	Ovary	ovary
22	chr6:145120200-145156400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:145120400-145145800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:145120600-145148200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:145120600-145148400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:145120600-145148800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:145120600-145154800	Weak transcription	Aorta	Aorta
28	chr6:145120800-145145000	Weak transcription	HSMMtube	muscle
29	chr6:145120800-145148400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:145120800-145155800	Weak transcription	Thymus	Thymus
31	chr6:145126000-145148200	Weak transcription	HUVEC	blood vessel
32	chr6:145126600-145169400	Weak transcription	Stomach Mucosa	stomach
33	chr6:145127000-145147800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:145127000-145148600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:145127600-145148400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:145130600-145163800	Weak transcription	NHEK	skin
37	chr6:145130800-145147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:145130800-145156800	Weak transcription	Osteobl	bone
39	chr6:145130800-145172200	Weak transcription	NH-A	brain
40	chr6:145131000-145148600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:145131000-145156600	Weak transcription	NHLF	lung
42	chr6:145131000-145157000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:145132400-145147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:145132800-145145200	Weak transcription	Fetal Thymus	thymus
45	chr6:145132800-145155600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:145135200-145149000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:145135400-145148200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:145135400-145148200	Weak transcription	Fetal Intestine Large	intestine
49	chr6:145135400-145152000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:145135400-145166000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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