Variant report

Variant	nsv613049
Chromosome Location	chr9:939156-955794
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:937368..939632-chr9:940406..941967,2	MCF-7	breast:
2	chr9:937368..939632-chr9:940406..941967,2	MCF-7	breast:
3	chr9:945711..948034-chr9:954926..957736,2	MCF-7	breast:
4	chr9:945711..948034-chr9:954926..957736,2	MCF-7	breast:
5	chr9:947744..949483-chr9:965915..968744,2	MCF-7	breast:
6	chr9:950930..953777-chr9:967112..968787,2	MCF-7	breast:
7	chr9:931185..932724-chr9:947067..948621,2	MCF-7	breast:
8	chr9:952441..954452-chr9:976112..977840,2	K562	blood:
9	chr9:953799..955412-chr9:960065..962028,2	MCF-7	breast:
10	chr9:945895..948429-chr9:952916..954422,2	MCF-7	breast:
11	chr9:945895..948429-chr9:952916..954422,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000064218	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28709376	chr9:943002-943003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564663839	chr9:943006-943007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578121159	chr9:943069-943070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10977669	chr9:943070-943071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs558981346	chr9:943072-943073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564012772	chr9:943078-943079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547756689	chr9:943124-943125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561327167	chr9:943132-943133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373720174	chr9:943146-943147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144775980	chr9:943156-943157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550846103	chr9:943201-943202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570706608	chr9:943262-943263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562695100	chr9:943301-943302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377606595	chr9:943305-943306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368746679	chr9:943354-943355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148595388	chr9:943445-943446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566942033	chr9:943450-943451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540425679	chr9:943465-943466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73639927	chr9:943510-943511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373764734	chr9:943539-943540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569224179	chr9:943567-943568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12343361	chr9:943568-943569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181150109	chr9:947825-947826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185342856	chr9:947855-947856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12004928	chr9:947880-947881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs544761469	chr9:947882-947883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557906829	chr9:947940-947941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577850340	chr9:947983-947984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568158123	chr9:948035-948036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545482406	chr9:948040-948041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559068275	chr9:948048-948049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189712655	chr9:948082-948083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541470893	chr9:948133-948134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140314738	chr9:948168-948169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530736989	chr9:948185-948186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73380471	chr9:948194-948195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112941298	chr9:949607-949608	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186994574	chr9:949615-949616	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191469386	chr9:949638-949639	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs200140466	chr9:949639-949640	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139868974	chr9:949649-949650	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571581059	chr9:949669-949670	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111232819	chr9:949675-949676	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547719847	chr9:949676-949677	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567751204	chr9:949720-949721	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182269777	chr9:949736-949737	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555125402	chr9:949747-949748	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568945753	chr9:949749-949750	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs28691211	chr9:949772-949773	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs80218312	chr9:949779-949780	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:943000-943400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:943000-943400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:943000-943600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:943000-943600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:943000-943600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:943000-943600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:943000-943600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:943000-943600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:947800-948200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:948000-948200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:949600-949800	Bivalent/Poised TSS	GM12878-XiMat	blood
12	chr9:952000-952600	Bivalent Enhancer	Fetal Kidney	kidney
13	chr9:953600-953800	Bivalent Enhancer	Fetal Kidney	kidney

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