Variant report

Variant	nsv460727
Chromosome Location	chr3:79264611-79406519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:79331170..79333643-chr3:79335436..79337673,2	K562	blood:
2	chr3:79331170..79333643-chr3:79335436..79337673,2	K562	blood:
3	chr3:79399794..79402189-chr3:79403043..79405665,2	MCF-7	breast:
4	chr3:79399794..79402189-chr3:79403043..79405665,2	MCF-7	breast:

Extended variants
information (count: 3638 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3638 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2077753	chr3:79264611-79264612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184687216	chr3:79264624-79264625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538789291	chr3:79264632-79264633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs137910684	chr3:79264736-79264737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571137063	chr3:79264737-79264738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533723681	chr3:79264740-79264741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1378634	chr3:79264770-79264771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142501461	chr3:79264776-79264777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368401879	chr3:79264786-79264787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556085677	chr3:79264806-79264807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576101533	chr3:79264814-79264815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545151101	chr3:79264857-79264858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75840537	chr3:79264872-79264873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569238073	chr3:79264885-79264886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145999815	chr3:79264966-79264967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148672523	chr3:79264967-79264968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188279206	chr3:79266445-79266446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554347110	chr3:79266498-79266499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575012806	chr3:79266513-79266514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114127697	chr3:79266545-79266546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557254596	chr3:79266576-79266577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79890582	chr3:79266585-79266586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545805238	chr3:79266597-79266598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556054372	chr3:79266705-79266706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144572979	chr3:79266789-79266790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536794507	chr3:79268624-79268625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550260153	chr3:79268667-79268668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148368685	chr3:79268694-79268695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533513376	chr3:79268753-79268754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140604644	chr3:79268771-79268772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534375506	chr3:79268774-79268775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190902250	chr3:79268818-79268819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540818981	chr3:79268829-79268830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573408401	chr3:79268837-79268838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115013407	chr3:79268839-79268840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114062083	chr3:79268891-79268892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376666450	chr3:79268905-79268906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371099171	chr3:79268990-79268991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183991809	chr3:79269013-79269014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186886789	chr3:79269054-79269055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577129271	chr3:79269101-79269102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529520510	chr3:79269185-79269186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551264976	chr3:79269190-79269191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113094821	chr3:79269208-79269209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559603100	chr3:79269241-79269242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549287491	chr3:79269244-79269245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112432956	chr3:79269265-79269266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565887218	chr3:79269284-79269285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528336278	chr3:79269337-79269338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542099147	chr3:79269387-79269388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79264400-79264800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr3:79264400-79264800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:79264400-79265000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:79264400-79265000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:79266400-79266800	Enhancers	HSMMtube	muscle
6	chr3:79268600-79269000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:79268600-79269200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:79269000-79270000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:79269200-79271400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:79270000-79270200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:79270000-79270400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:79270200-79272200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:79270400-79272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:79271400-79271600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:79271600-79272000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:79272000-79272800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:79272000-79273000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:79272000-79273000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:79272000-79273600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:79272200-79272600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:79272200-79272800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:79272400-79272800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:79272400-79272800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:79272600-79294800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:79272800-79274000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:79274000-79274200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:79282000-79282600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:79282400-79283000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:79282400-79283200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:79282600-79283200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:79282800-79283200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:79285400-79286200	Enhancers	Osteobl	bone
33	chr3:79285400-79286400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:79291000-79291400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr3:79291000-79291800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:79291200-79291800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr3:79291600-79292400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:79291800-79294400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:79291800-79294800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:79293400-79293800	Enhancers	Fetal Brain Male	brain
41	chr3:79293800-79297800	Weak transcription	Fetal Brain Male	brain
42	chr3:79294000-79294600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:79294000-79295600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:79294200-79294600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:79294200-79296600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:79294400-79295200	Enhancers	NHDF-Ad	bronchial
47	chr3:79294400-79295400	Enhancers	Fetal Lung	lung
48	chr3:79294400-79296600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:79294400-79297000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:79294600-79295000	Enhancers	H1 Cell Line	embryonic stem cell

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