Variant report

Variant	nsv972634
Chromosome Location	chr9:136953760-136955471
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	chr9:136932544..136934724-chr9:136952923..136955342,2	MCF-7	breast:
2	chr9:136955254..136956773-chr9:136964647..136966788,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169925	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146430527	chr9:136953760-136953761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184184140	chr9:136953773-136953774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs10821564	chr9:136953774-136953775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs565099785	chr9:136953793-136953794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72766657	chr9:136953818-136953819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561355402	chr9:136953823-136953824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189403761	chr9:136953830-136953831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs193194802	chr9:136953841-136953842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568501338	chr9:136953868-136953869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559424293	chr9:136953876-136953877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544395438	chr9:136953877-136953878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551640753	chr9:136953890-136953891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563815869	chr9:136953897-136953898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113962176	chr9:136953907-136953908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35883079	chr9:136953929-136953930	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77533582	chr9:136953970-136953971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143281097	chr9:136953994-136953995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7029493	chr9:136954017-136954018	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535871290	chr9:136954019-136954020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7029497	chr9:136954025-136954026	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs71505271	chr9:136954030-136954031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566205581	chr9:136954050-136954051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375772278	chr9:136954054-136954055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537433493	chr9:136954079-136954080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112879437	chr9:136954100-136954101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs202017884	chr9:136954101-136954102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs57254630	chr9:136954113-136954114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576286975	chr9:136954119-136954120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7038324	chr9:136954127-136954128	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557732507	chr9:136954130-136954131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573531663	chr9:136954131-136954132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190751122	chr9:136954133-136954134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181829893	chr9:136954172-136954173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7025791	chr9:136954188-136954189	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567055557	chr9:136954197-136954198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535920289	chr9:136954208-136954209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7038468	chr9:136954240-136954241	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7029781	chr9:136954268-136954269	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538928172	chr9:136954281-136954282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567585215	chr9:136954285-136954286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529263163	chr9:136954321-136954322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186127765	chr9:136954337-136954338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188244648	chr9:136954341-136954342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539553727	chr9:136954360-136954361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139037448	chr9:136954391-136954392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557896291	chr9:136954397-136954398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569936751	chr9:136954423-136954424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62575796	chr9:136954450-136954451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9775320	chr9:136954452-136954453	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555766209	chr9:136954453-136954454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136953000-136953800	Enhancers	Esophagus	oesophagus
2	chr9:136953400-136968400	Weak transcription	Gastric	stomach
3	chr9:136953600-136955200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:136954800-136955000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:136955000-136955400	Bivalent Enhancer	HepG2	liver
6	chr9:136955200-136955400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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