Variant report

Variant	nsv886926
Chromosome Location	chr6:165358270-165478051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:165447524..165449382-chr6:165456045..165457781,2	K562	blood:
2	chr6:165375696..165377875-chr6:165438259..165440436,2	K562	blood:
3	chr6:165447524..165449382-chr6:165456045..165457781,2	K562	blood:
4	chr6:165375696..165377875-chr6:165438259..165440436,2	K562	blood:
5	chr6:165271396..165272279-chr6:165462865..165463466,2	MCF-7	breast:

Extended variants
information (count: 2351 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2351 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180977054	chr6:165360406-165360407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537766314	chr6:165360412-165360413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568985809	chr6:165360415-165360416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536207651	chr6:165360437-165360438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555713545	chr6:165360454-165360455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368461228	chr6:165360462-165360463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186352741	chr6:165360514-165360515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553295788	chr6:165360527-165360528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559804369	chr6:165360549-165360550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572149760	chr6:165360558-165360559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191058552	chr6:165360658-165360659	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs34455662	chr6:165360724-165360725	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561170500	chr6:165360730-165360731	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs6914484	chr6:165360760-165360761	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6919069	chr6:165360775-165360776	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565240209	chr6:165360813-165360814	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs6919089	chr6:165360814-165360815	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6935467	chr6:165360816-165360817	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566156873	chr6:165360821-165360822	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565889359	chr6:165360844-165360845	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548462223	chr6:165360864-165360865	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374310908	chr6:165360867-165360868	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570254479	chr6:165360939-165360940	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576957418	chr6:165360978-165360979	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537297994	chr6:165360995-165360996	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558831215	chr6:165361075-165361076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570848094	chr6:165361101-165361102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538240957	chr6:165361106-165361107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564564351	chr6:165361108-165361109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77616277	chr6:165361115-165361116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9347953	chr6:165361116-165361117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs71569479	chr6:165361118-165361119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75161540	chr6:165361119-165361120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78378493	chr6:165361120-165361121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78889140	chr6:165361133-165361134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75983261	chr6:165361148-165361149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79029821	chr6:165361149-165361150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74854196	chr6:165361158-165361159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10806812	chr6:165361201-165361202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573672301	chr6:165361202-165361203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10806813	chr6:165361227-165361228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10806814	chr6:165361242-165361243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62539794	chr6:165361245-165361246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530153638	chr6:165361250-165361251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576196340	chr6:165361282-165361283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541785431	chr6:165361284-165361285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71502884	chr6:165361289-165361290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201692999	chr6:165361306-165361307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10806815	chr6:165361323-165361324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372290104	chr6:165361378-165361379	Weak transcription	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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165360400-165361000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:165360400-165361000	Enhancers	HSMM	muscle
3	chr6:165360400-165361000	Enhancers	HSMMtube	muscle
4	chr6:165360600-165360800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:165360600-165361000	Enhancers	Brain Angular Gyrus	brain
6	chr6:165360600-165361000	Active TSS	Brain Anterior Caudate	brain
7	chr6:165360600-165361000	Enhancers	Brain Hippocampus Middle	brain
8	chr6:165360600-165361000	Active TSS	Brain Substantia Nigra	brain
9	chr6:165361000-165364600	Weak transcription	HSMMtube	muscle
10	chr6:165374000-165374200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:165374200-165375000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:165376200-165376600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:165377400-165377800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:165380400-165381000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:165380600-165380800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:165380600-165381000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:165381000-165384200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:165384200-165385000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:165384400-165384800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:165384400-165385200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:165384400-165385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:165384600-165385200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:165384600-165385200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:165385000-165385200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:165404200-165406200	Enhancers	Placenta	Placenta
26	chr6:165405000-165406200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:165408200-165408400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:165408400-165410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:165410200-165410600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:165410400-165411000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:165420000-165420200	Enhancers	Spleen	Spleen
32	chr6:165420000-165420400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:165420400-165424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:165422200-165425600	Enhancers	HSMM	muscle
35	chr6:165422400-165422800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:165422400-165423000	Enhancers	HSMMtube	muscle
37	chr6:165422400-165423000	Enhancers	NH-A	brain
38	chr6:165422400-165425800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:165422800-165426800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:165423000-165423400	Weak transcription	HSMMtube	muscle
41	chr6:165423000-165423400	Weak transcription	NH-A	brain
42	chr6:165423200-165425400	Enhancers	Fetal Heart	heart
43	chr6:165423400-165424000	Enhancers	HSMMtube	muscle
44	chr6:165423400-165425400	Enhancers	NH-A	brain
45	chr6:165423600-165425800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr6:165423800-165425200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:165424000-165424400	Flanking Active TSS	HSMMtube	muscle
48	chr6:165424000-165424800	Enhancers	Fetal Kidney	kidney
49	chr6:165424000-165425600	Enhancers	Osteobl	bone
50	chr6:165424200-165424400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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