Variant report

Variant	nsv892041
Chromosome Location	chr9:1690810-1759486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:1709062..1709904-chr9:1836847..1837727,2	MCF-7	breast:
2	chr9:1709079..1709791-chr9:1869643..1870482,2	MCF-7	breast:
3	chr9:1721060..1723569-chr9:1724371..1726152,2	MCF-7	breast:
4	chr9:1721060..1723569-chr9:1724371..1726152,2	MCF-7	breast:
5	chr9:1709091..1710013-chr9:1869550..1870469,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-2	chr9:1718867-1718912	XLOC_007264

Extended variants
information (count: 2117 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2117 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575121009	chr9:1707211-1707212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570608017	chr9:1707218-1707219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141202406	chr9:1707225-1707226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377641071	chr9:1707274-1707275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552844552	chr9:1707284-1707285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4741581	chr9:1707290-1707291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73383942	chr9:1707304-1707305	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150732983	chr9:1707312-1707313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575215767	chr9:1707319-1707320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544281678	chr9:1707336-1707337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115590081	chr9:1707360-1707361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116089349	chr9:1707361-1707362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540969675	chr9:1707420-1707421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79838604	chr9:1707462-1707463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186635796	chr9:1707483-1707484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115659984	chr9:1707492-1707493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7029758	chr9:1707496-1707497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531744607	chr9:1707509-1707510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7029859	chr9:1707518-1707519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567882832	chr9:1707524-1707525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570600447	chr9:1707526-1707527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530461663	chr9:1707532-1707533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543759330	chr9:1707556-1707557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2785730	chr9:1707568-1707569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs567119552	chr9:1707584-1707585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191392540	chr9:1707586-1707587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557893734	chr9:1707588-1707589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368173873	chr9:1707591-1707592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371594415	chr9:1707621-1707622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138278163	chr9:1707650-1707651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568814110	chr9:1707665-1707666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536668311	chr9:1707677-1707678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12377978	chr9:1707684-1707685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs578119018	chr9:1707693-1707694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573539776	chr9:1707709-1707710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554524386	chr9:1707724-1707725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574347932	chr9:1707732-1707733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543326597	chr9:1707735-1707736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542540975	chr9:1707762-1707763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12378287	chr9:1707787-1707788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572711326	chr9:1707798-1707799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77623958	chr9:1707801-1707802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147331476	chr9:1707804-1707805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140998978	chr9:1707807-1707808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144652503	chr9:1707809-1707810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372360397	chr9:1707882-1707883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559900685	chr9:1707889-1707890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73383951	chr9:1707892-1707893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548864058	chr9:1707926-1707927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144671537	chr9:1707927-1707928	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1707200-1707800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:1707200-1707800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:1707200-1707800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr9:1707200-1707800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:1707200-1708000	Enhancers	NHEK	skin
6	chr9:1707200-1708600	Enhancers	HMEC	breast
7	chr9:1707400-1707800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:1707600-1708000	Enhancers	Fetal Kidney	kidney
9	chr9:1707600-1708400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:1712000-1714200	Enhancers	Fetal Brain Male	brain
11	chr9:1712200-1714200	Enhancers	Fetal Brain Female	brain
12	chr9:1718000-1736800	Weak transcription	Adipose Nuclei	Adipose
13	chr9:1721400-1722400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:1721400-1722600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr9:1721600-1723400	Enhancers	Stomach Mucosa	stomach
16	chr9:1722400-1722600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:1722400-1727200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:1722600-1727400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr9:1723600-1724800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:1724400-1725800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:1724800-1726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:1725600-1726600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:1725800-1726000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:1726000-1726600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr9:1726000-1727200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:1726600-1726800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:1726600-1727000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:1726600-1727200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr9:1727000-1727400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr9:1727000-1727600	Enhancers	GM12878-XiMat	blood
31	chr9:1727200-1727400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:1727200-1727400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:1727200-1727600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:1727400-1727600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:1736800-1737000	Enhancers	Adipose Nuclei	Adipose
36	chr9:1737000-1738200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:1738000-1738200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:1738200-1738400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:1738200-1738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:1738400-1738600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:1738600-1739400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:1739400-1739600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:1739600-1740200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:1740200-1740400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:1740400-1741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:1742000-1742600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:1742600-1745200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:1743600-1744200	Enhancers	Fetal Brain Female	brain
49	chr9:1744000-1744400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:1747600-1748000	ZNF genes & repeats	GM12878-XiMat	blood

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