Variant report

Variant	nsv460730
Chromosome Location	chr3:79286801-79411014
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:79135269..79136279-chr3:79410679..79411261,3	MCF-7	breast:
2	chr3:79331170..79333643-chr3:79335436..79337673,2	K562	blood:
3	chr3:79331170..79333643-chr3:79335436..79337673,2	K562	blood:
4	chr3:79399794..79402189-chr3:79403043..79405665,2	MCF-7	breast:
5	chr3:79410891..79411542-chr3:79546444..79547075,2	MCF-7	breast:
6	chr3:79135076..79136114-chr3:79410411..79411762,9	MCF-7	breast:
7	chr3:79081752..79082476-chr3:79410956..79411574,2	MCF-7	breast:
8	chr3:79399794..79402189-chr3:79403043..79405665,2	MCF-7	breast:
9	chr3:79410937..79411589-chr3:79546341..79547194,2	MCF-7	breast:

No data

Extended variants
information (count: 3184 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3184 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11924816	chr3:79286801-79286802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543339039	chr3:79286817-79286818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562940769	chr3:79286825-79286826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180673265	chr3:79286833-79286834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558880048	chr3:79286868-79286869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115084650	chr3:79286873-79286874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371313381	chr3:79286948-79286949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374231628	chr3:79286960-79286961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148591473	chr3:79287211-79287212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544875009	chr3:79287276-79287277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185341900	chr3:79287317-79287318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566329430	chr3:79287339-79287340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555312404	chr3:79287366-79287367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79701221	chr3:79287367-79287368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142484232	chr3:79287388-79287389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147564156	chr3:79287392-79287393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575248129	chr3:79287405-79287406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190890178	chr3:79287417-79287418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532682152	chr3:79287422-79287423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78191175	chr3:79287484-79287485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540826684	chr3:79287534-79287535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560551215	chr3:79287535-79287536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557850073	chr3:79287558-79287559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577849263	chr3:79287602-79287603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533851783	chr3:79287629-79287630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184126036	chr3:79287630-79287631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368620384	chr3:79287646-79287647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574274438	chr3:79287706-79287707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543314318	chr3:79287793-79287794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562993601	chr3:79287888-79287889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186653344	chr3:79287906-79287907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192016315	chr3:79287967-79287968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532197885	chr3:79288017-79288018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564920091	chr3:79288022-79288023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80082682	chr3:79288045-79288046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115135910	chr3:79288053-79288054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377152543	chr3:79288065-79288066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144354383	chr3:79288099-79288100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368017276	chr3:79288118-79288119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73110993	chr3:79288153-79288154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549284389	chr3:79288182-79288183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569022173	chr3:79288185-79288186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147820537	chr3:79288191-79288192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140264113	chr3:79288209-79288210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571258276	chr3:79288250-79288251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150356402	chr3:79288342-79288343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117993443	chr3:79288364-79288365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547820601	chr3:79288373-79288374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186837716	chr3:79288424-79288425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191721343	chr3:79288471-79288472	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:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79272600-79294800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:79291000-79291400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr3:79291000-79291800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:79291200-79291800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr3:79291600-79292400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:79291800-79294400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:79291800-79294800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:79293400-79293800	Enhancers	Fetal Brain Male	brain
9	chr3:79293800-79297800	Weak transcription	Fetal Brain Male	brain
10	chr3:79294000-79294600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:79294000-79295600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:79294200-79294600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:79294200-79296600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:79294400-79295200	Enhancers	NHDF-Ad	bronchial
15	chr3:79294400-79295400	Enhancers	Fetal Lung	lung
16	chr3:79294400-79296600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:79294400-79297000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:79294600-79295000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:79294600-79295000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:79294600-79295400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr3:79294600-79295400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:79294600-79295600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr3:79294600-79297600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:79294600-79298200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:79294800-79295000	Enhancers	HSMM	muscle
26	chr3:79294800-79295600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:79294800-79297200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:79295000-79296600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:79295200-79296400	Weak transcription	HSMM	muscle
30	chr3:79295200-79296600	Weak transcription	NHDF-Ad	bronchial
31	chr3:79295400-79295600	Enhancers	Colon Smooth Muscle	Colon
32	chr3:79295400-79296200	Flanking Active TSS	Fetal Lung	lung
33	chr3:79295400-79297000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:79295600-79296400	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:79295600-79296600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:79295600-79297000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:79296000-79296800	Enhancers	Fetal Brain Female	brain
38	chr3:79296200-79296400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr3:79296200-79297000	Active TSS	Fetal Lung	lung
40	chr3:79296200-79297200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:79296400-79296800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:79296400-79296800	Enhancers	NHLF	lung
43	chr3:79296400-79297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:79296400-79297000	Enhancers	Colon Smooth Muscle	Colon
45	chr3:79296400-79297200	Active TSS	Stomach Smooth Muscle	stomach
46	chr3:79296400-79297200	Enhancers	HSMM	muscle
47	chr3:79296400-79297400	Enhancers	Fetal Kidney	kidney
48	chr3:79296400-79297400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr3:79296600-79296800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:79296600-79297000	Active TSS	Right Atrium	heart

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