Variant report

Variant	nsv1025019
Chromosome Location	chr6:131074711-131116070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:131088960..131091588-chr6:131094520..131097000,2	K562	blood:
2	chr6:131068465..131070607-chr6:131098057..131100480,2	K562	blood:
3	chr6:131109093..131109911-chr6:131164434..131164971,2	MCF-7	breast:
4	chr6:131085476..131087927-chr6:131091434..131093029,2	MCF-7	breast:
5	chr6:130614691..130615581-chr6:131080850..131081759,2	MCF-7	breast:
6	chr6:131019021..131019768-chr6:131080914..131081754,2	MCF-7	breast:
7	chr6:130643591..130644896-chr6:131080866..131081825,5	MCF-7	breast:
8	chr6:131088960..131091588-chr6:131094520..131097000,2	K562	blood:
9	chr6:130614632..130615507-chr6:131081118..131081796,2	MCF-7	breast:
10	chr6:131085476..131087927-chr6:131091434..131093029,2	MCF-7	breast:

No data

Extended variants
information (count: 1291 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1291 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189106818	chr6:131074738-131074739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1497890	chr6:131074746-131074747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs530174317	chr6:131074757-131074758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548669903	chr6:131074781-131074782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75266984	chr6:131074837-131074838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180719055	chr6:131074844-131074845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552463511	chr6:131074904-131074905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145453768	chr6:131074921-131074922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76145505	chr6:131074936-131074937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185558877	chr6:131074950-131074951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34939264	chr6:131074966-131074967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79743041	chr6:131075018-131075019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189948018	chr6:131075044-131075045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535162298	chr6:131075049-131075050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553456160	chr6:131075146-131075147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs640938	chr6:131075203-131075204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573072903	chr6:131075229-131075230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552357059	chr6:131075230-131075231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs420974	chr6:131075341-131075342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141983751	chr6:131075342-131075343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs399642	chr6:131075344-131075345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565302535	chr6:131075359-131075360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534141435	chr6:131075363-131075364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57426669	chr6:131075377-131075378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs177049	chr6:131075379-131075380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181678499	chr6:131075407-131075408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143491654	chr6:131075420-131075421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79936722	chr6:131075449-131075450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71572937	chr6:131075471-131075472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9388840	chr6:131075506-131075507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1157609	chr6:131075532-131075533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371826	chr6:131075533-131075534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143579965	chr6:131075548-131075549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186749533	chr6:131075549-131075550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201261855	chr6:131075558-131075559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs177050	chr6:131075559-131075560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114973547	chr6:131075560-131075561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546805466	chr6:131075626-131075627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568270006	chr6:131075636-131075637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564371644	chr6:131075679-131075680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375567538	chr6:131075680-131075681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192421012	chr6:131075688-131075689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550060499	chr6:131075691-131075692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567917309	chr6:131075695-131075696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs399506	chr6:131075771-131075772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115435669	chr6:131075794-131075795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183812529	chr6:131075853-131075854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188929015	chr6:131075882-131075883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190878897	chr6:131075913-131075914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9492713	chr6:131075949-131075950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Breast cancer	21364760	CNVD
Brain cancer	19584924	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131073000-131074800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131074800-131075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:131074800-131075400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:131075200-131076800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:131075400-131076800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:131076400-131076800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:131076800-131077200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:131078000-131078200	Enhancers	Fetal Brain Male	brain
9	chr6:131078200-131079000	Weak transcription	Fetal Brain Male	brain
10	chr6:131079000-131079800	Enhancers	Fetal Brain Male	brain
11	chr6:131079600-131080400	Enhancers	Primary T cells from cord blood	blood
12	chr6:131079600-131080400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:131079600-131080400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:131079600-131080400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:131079600-131080400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:131079600-131081000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:131079600-131081400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:131079800-131080200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:131079800-131080400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:131079800-131080400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:131079800-131080600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:131080000-131080400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:131080400-131080800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:131080400-131081000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:131080800-131081200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr6:131081000-131081200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:131081000-131081200	Enhancers	Osteobl	bone
28	chr6:131081000-131081400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:131081000-131081600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:131081400-131086400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:131086400-131086800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:131086400-131086800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:131086400-131086800	Enhancers	Gastric	stomach
34	chr6:131090800-131091000	Enhancers	Fetal Brain Male	brain
35	chr6:131091000-131099400	Weak transcription	Fetal Brain Male	brain
36	chr6:131092800-131093600	Enhancers	Fetal Brain Female	brain
37	chr6:131094800-131095800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:131095800-131096200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:131096200-131098000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:131096400-131097000	Enhancers	GM12878-XiMat	blood
41	chr6:131096400-131097200	Enhancers	NHDF-Ad	bronchial
42	chr6:131096400-131097600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:131096600-131096800	Enhancers	HSMM	muscle
44	chr6:131096800-131097000	Enhancers	Osteobl	bone
45	chr6:131097000-131097600	Weak transcription	Osteobl	bone
46	chr6:131097000-131098200	Flanking Active TSS	GM12878-XiMat	blood
47	chr6:131097000-131099800	Weak transcription	HSMM	muscle
48	chr6:131097200-131099800	Weak transcription	NHDF-Ad	bronchial
49	chr6:131097400-131097600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:131097400-131097800	Enhancers	Pancreatic Islets	Pancreatic Islet

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