Variant report

Variant	nsv604665
Chromosome Location	chr6:131077027-131115817
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	chr6:131019021..131019768-chr6:131080914..131081754,2	MCF-7	breast:
2	chr6:130643591..130644896-chr6:131080866..131081825,5	MCF-7	breast:
3	chr6:130614691..130615581-chr6:131080850..131081759,2	MCF-7	breast:
4	chr6:131088960..131091588-chr6:131094520..131097000,2	K562	blood:
5	chr6:131068465..131070607-chr6:131098057..131100480,2	K562	blood:
6	chr6:131085476..131087927-chr6:131091434..131093029,2	MCF-7	breast:
7	chr6:131088960..131091588-chr6:131094520..131097000,2	K562	blood:
8	chr6:131109093..131109911-chr6:131164434..131164971,2	MCF-7	breast:
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: 1193 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1193 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1876545	chr6:131077027-131077028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1876544	chr6:131077046-131077047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532784412	chr6:131077079-131077080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551024981	chr6:131077110-131077111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74467749	chr6:131077169-131077170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115224972	chr6:131077184-131077185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543309824	chr6:131077185-131077186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562265157	chr6:131078025-131078026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529535635	chr6:131078107-131078108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548076491	chr6:131078119-131078120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530909425	chr6:131078132-131078133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561281107	chr6:131078138-131078139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368016599	chr6:131078160-131078161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17059520	chr6:131078180-131078181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551801110	chr6:131078444-131078445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181117792	chr6:131078463-131078464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187120681	chr6:131078464-131078465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190059992	chr6:131078522-131078523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555601094	chr6:131078593-131078594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28434638	chr6:131078647-131078648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181705777	chr6:131078716-131078717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187200456	chr6:131078723-131078724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140148754	chr6:131078724-131078725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577560701	chr6:131078732-131078733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544670502	chr6:131078750-131078751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563256511	chr6:131078755-131078756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575138003	chr6:131078775-131078776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542681139	chr6:131078786-131078787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560981474	chr6:131078789-131078790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143882734	chr6:131078799-131078800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575883715	chr6:131078813-131078814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368919862	chr6:131078819-131078820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9388842	chr6:131078872-131078873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151335907	chr6:131078881-131078882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7742149	chr6:131078960-131078961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6569704	chr6:131079060-131079061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570005385	chr6:131079077-131079078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530826274	chr6:131079121-131079122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376638777	chr6:131079128-131079129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528554004	chr6:131079136-131079137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149881394	chr6:131079212-131079213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547118041	chr6:131079263-131079264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79300115	chr6:131079318-131079319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565800059	chr6:131079340-131079341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4897461	chr6:131079428-131079429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190861606	chr6:131079450-131079451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529097775	chr6:131079472-131079473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73774118	chr6:131079486-131079487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113695709	chr6:131079505-131079506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72996238	chr6:131079572-131079573	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:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131076800-131077200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:131078000-131078200	Enhancers	Fetal Brain Male	brain
3	chr6:131078200-131079000	Weak transcription	Fetal Brain Male	brain
4	chr6:131079000-131079800	Enhancers	Fetal Brain Male	brain
5	chr6:131079600-131080400	Enhancers	Primary T cells from cord blood	blood
6	chr6:131079600-131080400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr6:131079600-131080400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:131079600-131080400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:131079600-131080400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:131079600-131081000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:131079600-131081400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:131079800-131080200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:131079800-131080400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:131079800-131080400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:131079800-131080600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:131080000-131080400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr6:131080400-131080800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:131080400-131081000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:131080800-131081200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:131081000-131081200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:131081000-131081200	Enhancers	Osteobl	bone
22	chr6:131081000-131081400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:131081000-131081600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:131081400-131086400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:131086400-131086800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:131086400-131086800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:131086400-131086800	Enhancers	Gastric	stomach
28	chr6:131090800-131091000	Enhancers	Fetal Brain Male	brain
29	chr6:131091000-131099400	Weak transcription	Fetal Brain Male	brain
30	chr6:131092800-131093600	Enhancers	Fetal Brain Female	brain
31	chr6:131094800-131095800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:131095800-131096200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:131096200-131098000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:131096400-131097000	Enhancers	GM12878-XiMat	blood
35	chr6:131096400-131097200	Enhancers	NHDF-Ad	bronchial
36	chr6:131096400-131097600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr6:131096600-131096800	Enhancers	HSMM	muscle
38	chr6:131096800-131097000	Enhancers	Osteobl	bone
39	chr6:131097000-131097600	Weak transcription	Osteobl	bone
40	chr6:131097000-131098200	Flanking Active TSS	GM12878-XiMat	blood
41	chr6:131097000-131099800	Weak transcription	HSMM	muscle
42	chr6:131097200-131099800	Weak transcription	NHDF-Ad	bronchial
43	chr6:131097400-131097600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:131097400-131097800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr6:131097400-131098200	Enhancers	Primary T cells from cord blood	blood
46	chr6:131097400-131098200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:131097400-131098600	Enhancers	Dnd41	blood
48	chr6:131097600-131097800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr6:131097600-131097800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:131097600-131098000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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