Variant report

Variant	nsv1030725
Chromosome Location	chr9:1723364-1760672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:1721060..1723569-chr9:1724371..1726152,2	MCF-7	breast:
2	chr9:1721060..1723569-chr9:1724371..1726152,2	MCF-7	breast:

Extended variants
information (count: 1593 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1593 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181133753	chr9:1723383-1723384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551681571	chr9:1723387-1723388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200011087	chr9:1723406-1723407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs474015	chr9:1723433-1723434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs386731592	chr9:1723451-1723452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111458796	chr9:1723452-1723453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs66476941	chr9:1723453-1723454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573232685	chr9:1723462-1723463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144372823	chr9:1723480-1723481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186309237	chr9:1723487-1723488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555628975	chr9:1723506-1723507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543284368	chr9:1723520-1723521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374889349	chr9:1723539-1723540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151123668	chr9:1723546-1723547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367556507	chr9:1723575-1723576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572559230	chr9:1723584-1723585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556725330	chr9:1723606-1723607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576732476	chr9:1723607-1723608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs472213	chr9:1723627-1723628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs558942267	chr9:1723639-1723640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375167606	chr9:1723649-1723650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79018045	chr9:1723654-1723655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367931195	chr9:1723657-1723658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561667942	chr9:1723674-1723675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10122750	chr9:1723682-1723683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190020370	chr9:1723688-1723689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550940649	chr9:1723695-1723696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576840161	chr9:1723706-1723707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74517039	chr9:1723720-1723721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553916555	chr9:1723742-1723743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35812411	chr9:1723787-1723788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571009887	chr9:1723791-1723792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533676944	chr9:1723829-1723830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181640781	chr9:1723834-1723835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372134693	chr9:1723836-1723837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545901303	chr9:1723857-1723858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186218922	chr9:1723901-1723902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114202151	chr9:1723905-1723906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139969492	chr9:1723927-1723928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569291553	chr9:1723930-1723931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538331630	chr9:1723946-1723947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556749905	chr9:1723959-1723960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149784707	chr9:1723966-1723967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145711748	chr9:1724010-1724011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552878147	chr9:1724020-1724021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573077403	chr9:1724022-1724023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541501686	chr9:1724026-1724027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376994510	chr9:1724034-1724035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569380	chr9:1724044-1724045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs576105400	chr9:1724089-1724090	Weak transcription 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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1718000-1736800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1721600-1723400	Enhancers	Stomach Mucosa	stomach
3	chr9:1722400-1727200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:1722600-1727400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:1723600-1724800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:1724400-1725800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:1724800-1726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:1725600-1726600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:1725800-1726000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:1726000-1726600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr9:1726000-1727200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:1726600-1726800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:1726600-1727000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:1726600-1727200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:1727000-1727400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr9:1727000-1727600	Enhancers	GM12878-XiMat	blood
17	chr9:1727200-1727400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:1727200-1727400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:1727200-1727600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:1727400-1727600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr9:1736800-1737000	Enhancers	Adipose Nuclei	Adipose
22	chr9:1737000-1738200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:1738000-1738200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:1738200-1738400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:1738200-1738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:1738400-1738600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:1738600-1739400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:1739400-1739600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:1739600-1740200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:1740200-1740400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:1740400-1741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:1742000-1742600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:1742600-1745200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:1743600-1744200	Enhancers	Fetal Brain Female	brain
35	chr9:1744000-1744400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:1747600-1748000	ZNF genes & repeats	GM12878-XiMat	blood
37	chr9:1748000-1748400	Enhancers	GM12878-XiMat	blood
38	chr9:1757200-1757800	Enhancers	Fetal Muscle Leg	muscle
39	chr9:1757800-1759200	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:1758600-1758800	ZNF genes & repeats	GM12878-XiMat	blood
41	chr9:1758800-1759000	Flanking Active TSS	GM12878-XiMat	blood
42	chr9:1759000-1759400	Enhancers	Ovary	ovary
43	chr9:1759000-1759800	Active TSS	GM12878-XiMat	blood
44	chr9:1759200-1759400	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:1759200-1760000	Enhancers	Fetal Muscle Leg	muscle
46	chr9:1759200-1760400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr9:1759200-1760400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:1759400-1760000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr9:1759600-1760200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:1759800-1760400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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