Variant report

Variant	nsv520992
Chromosome Location	chr6:143118715-143120359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143116941..143118890-chr6:143133328..143134995,2	MCF-7	breast:
2	chr6:143119457..143121127-chr6:143123528..143126116,2	K562	blood:
3	chr6:143116694..143119328-chr6:143121007..143124845,4	MCF-7	breast:
4	chr6:143118967..143121950-chr6:143122825..143125475,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12525269	chr6:143118715-143118716	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184173513	chr6:143118820-143118821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs473497	chr6:143118863-143118864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186651555	chr6:143118932-143118933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192065950	chr6:143118956-143118957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535718399	chr6:143118968-143118969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554710277	chr6:143118971-143118972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576016575	chr6:143118985-143118986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543517434	chr6:143119000-143119001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558578731	chr6:143119001-143119002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571367171	chr6:143119038-143119039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527391996	chr6:143119049-143119050	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373200236	chr6:143119058-143119059	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528271553	chr6:143119061-143119062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550149	chr6:143119086-143119087	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541299268	chr6:143119128-143119129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182490368	chr6:143119176-143119177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530375219	chr6:143119215-143119216	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567136620	chr6:143119236-143119237	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370404070	chr6:143119251-143119252	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73586542	chr6:143119304-143119305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112994203	chr6:143119314-143119315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs187042322	chr6:143119335-143119336	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191096796	chr6:143119344-143119345	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552321587	chr6:143119345-143119346	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570526570	chr6:143119359-143119360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528178757	chr6:143119384-143119385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201838931	chr6:143119405-143119406	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547612498	chr6:143119411-143119412	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568240128	chr6:143119421-143119422	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535422230	chr6:143119426-143119427	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575608286	chr6:143119432-143119433	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557178351	chr6:143119491-143119492	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569715986	chr6:143119492-143119493	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537015801	chr6:143119547-143119548	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556062657	chr6:143119575-143119576	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558515223	chr6:143119583-143119584	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569582011	chr6:143119612-143119613	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113438508	chr6:143119666-143119667	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541515234	chr6:143119715-143119716	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372216169	chr6:143119740-143119741	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140069283	chr6:143119748-143119749	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182256925	chr6:143119763-143119764	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12211360	chr6:143119832-143119833	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
45	rs188005533	chr6:143119847-143119848	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144129183	chr6:143119862-143119863	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545848137	chr6:143120018-143120019	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79456050	chr6:143120035-143120036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528241323	chr6:143120085-143120086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193061582	chr6:143120097-143120098	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	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
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
Breast cancer	21364760	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143095800-143122200	Weak transcription	NHEK	skin
2	chr6:143096000-143122000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:143096200-143120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:143096200-143140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:143103600-143124800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:143103800-143125400	Weak transcription	Fetal Thymus	thymus
7	chr6:143105800-143121000	Weak transcription	Brain Angular Gyrus	brain
8	chr6:143105800-143140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:143106000-143118800	Weak transcription	Primary B cells from cord blood	blood
10	chr6:143106000-143128200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:143106000-143140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:143108200-143121200	Weak transcription	HSMM	muscle
13	chr6:143108400-143119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:143108800-143123600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:143109200-143121000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:143112200-143139400	Weak transcription	HepG2	liver
17	chr6:143113200-143119400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:143113200-143140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:143113800-143120800	Weak transcription	Pancreas	Pancrea
20	chr6:143114200-143140800	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:143116000-143121000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:143116000-143125400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:143116000-143139600	Weak transcription	Small Intestine	intestine
24	chr6:143116200-143132200	Weak transcription	Fetal Brain Female	brain
25	chr6:143117000-143129400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:143117000-143140800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:143117200-143118800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:143117400-143119200	Weak transcription	Stomach Mucosa	stomach
29	chr6:143117600-143118800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:143117600-143118800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:143117600-143120400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:143117600-143120800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:143117600-143121400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:143117600-143122800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:143118000-143119000	Enhancers	GM12878-XiMat	blood
36	chr6:143118000-143119200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:143118000-143119200	Weak transcription	Brain Anterior Caudate	brain
38	chr6:143118000-143123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:143118000-143126200	Weak transcription	Right Ventricle	heart
40	chr6:143118000-143132200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:143118000-143137600	Weak transcription	Right Atrium	heart
42	chr6:143118200-143119200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:143118200-143119400	Weak transcription	Brain Substantia Nigra	brain
44	chr6:143118200-143119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:143118200-143119600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:143118200-143119800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:143118200-143120400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:143118200-143120400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:143118200-143120400	Weak transcription	Osteobl	bone
50	chr6:143118200-143120800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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