Variant report

Variant	nsv892040
Chromosome Location	chr9:1672167-1759486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 3040 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3040 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2485180	chr9:1672167-1672168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572918967	chr9:1672231-1672232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188983306	chr9:1672240-1672241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10756771	chr9:1672267-1672268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575319373	chr9:1672276-1672277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150767942	chr9:1672283-1672284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192723968	chr9:1672284-1672285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577695982	chr9:1672292-1672293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114446077	chr9:1672299-1672300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183934447	chr9:1672302-1672303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112959275	chr9:1672339-1672340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548234777	chr9:1672345-1672346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113630174	chr9:1672349-1672350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73641799	chr9:1672381-1672382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551393262	chr9:1672411-1672412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571294365	chr9:1672416-1672417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534318374	chr9:1672430-1672431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527437553	chr9:1672435-1672436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139810608	chr9:1672442-1672443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566660338	chr9:1672473-1672474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145295874	chr9:1672499-1672500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555589632	chr9:1672500-1672501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188653059	chr9:1672503-1672504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538116509	chr9:1672509-1672510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368697921	chr9:1672510-1672511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181358155	chr9:1672515-1672516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577531440	chr9:1672536-1672537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540342807	chr9:1672559-1672560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570352974	chr9:1672576-1672577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147629210	chr9:1672598-1672599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573672066	chr9:1672623-1672624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78761674	chr9:1672626-1672627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562721279	chr9:1672631-1672632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531918477	chr9:1672634-1672635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185969746	chr9:1672650-1672651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564962528	chr9:1672651-1672652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60268993	chr9:1672671-1672672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547878100	chr9:1672772-1672773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376495709	chr9:1672783-1672784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2485181	chr9:1672817-1672818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2485182	chr9:1672822-1672823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs59306697	chr9:1672829-1672830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190336795	chr9:1672843-1672844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181932975	chr9:1672850-1672851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577568096	chr9:1672872-1672873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12341657	chr9:1672880-1672881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533594676	chr9:1672903-1672904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140306634	chr9:1672914-1672915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111311014	chr9:1672924-1672925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4412414	chr9:1672928-1672929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1668200-1674800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:1671800-1673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:1673200-1673600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr9:1674800-1675800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:1675800-1679000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:1676000-1678200	Weak transcription	Adipose Nuclei	Adipose
7	chr9:1679000-1679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:1679000-1679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:1679800-1680600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:1679800-1683800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:1680800-1681000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:1681800-1682400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:1682400-1683600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:1683600-1683800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:1683800-1685000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:1685000-1685200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:1685200-1686600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:1686600-1687600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:1707200-1707800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:1707200-1707800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:1707200-1707800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:1707200-1707800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:1707200-1708000	Enhancers	NHEK	skin
24	chr9:1707200-1708600	Enhancers	HMEC	breast
25	chr9:1707400-1707800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr9:1707600-1708000	Enhancers	Fetal Kidney	kidney
27	chr9:1707600-1708400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:1712000-1714200	Enhancers	Fetal Brain Male	brain
29	chr9:1712200-1714200	Enhancers	Fetal Brain Female	brain
30	chr9:1718000-1736800	Weak transcription	Adipose Nuclei	Adipose
31	chr9:1721400-1722400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr9:1721400-1722600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:1721600-1723400	Enhancers	Stomach Mucosa	stomach
34	chr9:1722400-1722600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:1722400-1727200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr9:1722600-1727400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr9:1723600-1724800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:1724400-1725800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:1724800-1726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:1725600-1726600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr9:1725800-1726000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr9:1726000-1726600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr9:1726000-1727200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:1726600-1726800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:1726600-1727000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr9:1726600-1727200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:1727000-1727400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr9:1727000-1727600	Enhancers	GM12878-XiMat	blood
49	chr9:1727200-1727400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr9:1727200-1727400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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