Variant report

Variant	nsv460816
Chromosome Location	chr3:109878008-110044601
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110022159..110024501-chr6:145141877..145144734,2	MCF-7	breast:
2	chr3:109956842..109959360-chr3:109959849..109962429,2	K562	blood:
3	chr3:109450507..109451352-chr3:110033129..110033977,4	MCF-7	breast:
4	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
5	chr3:109250448..109251796-chr3:110033305..110033942,4	MCF-7	breast:
6	chr3:109956842..109959360-chr3:109959849..109962429,2	K562	blood:
7	chr2:238935478..238936978-chr3:109983986..109985979,2	MCF-7	breast:
8	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:

No data

Extended variants
information (count: 2956 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2956 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17667034	chr3:109878008-109878009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557182352	chr3:109878042-109878043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146072219	chr3:109878069-109878070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539635918	chr3:109878122-109878123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538674274	chr3:109878133-109878134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189163513	chr3:109878177-109878178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558512993	chr3:109878178-109878179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571584111	chr3:109878220-109878221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138871169	chr3:109878269-109878270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541509174	chr3:109878339-109878340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369468779	chr3:109878346-109878347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142804902	chr3:109878373-109878374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543773955	chr3:109878396-109878397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549781752	chr3:109878454-109878455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563945514	chr3:109878457-109878458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577591525	chr3:109878499-109878500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74808517	chr3:109878508-109878509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559381120	chr3:109878533-109878534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62283680	chr3:109878556-109878557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192845965	chr3:109878577-109878578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561744439	chr3:109878597-109878598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79626354	chr3:109878616-109878617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6437893	chr3:109878667-109878668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570445518	chr3:109878694-109878695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527697086	chr3:109878700-109878701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573928027	chr3:109878705-109878706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185326336	chr3:109878725-109878726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565690567	chr3:109878754-109878755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1542499	chr3:109878782-109878783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114538578	chr3:109878820-109878821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112973550	chr3:109878838-109878839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574957608	chr3:109878866-109878867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537680030	chr3:109878881-109878882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557574848	chr3:109878900-109878901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577652366	chr3:109878952-109878953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556370704	chr3:109878985-109878986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559397065	chr3:109878986-109878987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1542498	chr3:109879000-109879001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578057924	chr3:109879017-109879018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572759892	chr3:109879056-109879057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544760669	chr3:109879091-109879092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188498670	chr3:109879123-109879124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561847038	chr3:109879149-109879150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530503923	chr3:109879201-109879202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550399033	chr3:109879222-109879223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559939487	chr3:109879376-109879377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375905667	chr3:109879422-109879423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372073212	chr3:109879557-109879558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533059541	chr3:109879583-109879584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546447668	chr3:109879594-109879595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109876600-109884400	Weak transcription	Aorta	Aorta
2	chr3:109881600-109882400	Enhancers	Ovary	ovary
3	chr3:109881800-109882800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:109882000-109883600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:109882200-109884000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:109882200-109884200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:109882400-109882600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:109882400-109882600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr3:109882400-109883600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:109882400-109883800	Weak transcription	Ovary	ovary
11	chr3:109882400-109884000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:109882400-109884000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:109882600-109883400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:109882800-109884000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:109882800-109884000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:109882800-109884400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:109883200-109885400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:109883400-109884000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:109883400-109884200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:109883400-109884200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:109883600-109884000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:109883600-109884000	Enhancers	A549	lung
23	chr3:109883600-109884600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr3:109883600-109884800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr3:109883800-109884200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:109883800-109884200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:109883800-109884200	Active TSS	Ovary	ovary
28	chr3:109883800-109884400	Enhancers	Fetal Stomach	stomach
29	chr3:109883800-109884800	Enhancers	Fetal Lung	lung
30	chr3:109883800-109886200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:109884000-109884200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr3:109884000-109884400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr3:109884000-109884400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr3:109884000-109884400	Enhancers	HepG2	liver
35	chr3:109884000-109884600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:109884000-109884600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr3:109884000-109884600	Flanking Active TSS	A549	lung
38	chr3:109884000-109884800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr3:109884000-109885000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:109884000-109885000	Enhancers	Stomach Mucosa	stomach
41	chr3:109884200-109884400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr3:109884200-109884400	Weak transcription	Ovary	ovary
43	chr3:109884200-109884800	Active TSS	Liver	Liver
44	chr3:109884200-109885000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:109884200-109885000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:109884200-109885000	Enhancers	NHLF	lung
47	chr3:109884200-109886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:109884400-109884600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr3:109884400-109884800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr3:109884400-109884800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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