Variant report

Variant	nsv972417
Chromosome Location	chr9:94766194-94769276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:94766280-94766430	MCF-7	breast:	n/a	n/a
2	CTCF	chr9:94766562-94766667	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr9:94766380-94766530	HVMF	connective:	n/a	n/a
4	CTCF	chr9:94766300-94766450	HepG2	liver:	n/a	n/a
5	CTCF	chr9:94766340-94766490	MCF-7	breast:	n/a	n/a
6	RAD21	chr9:94766350-94766511	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr9:94766280-94766668	H1-hESC	embryonic stem cell:	n/a	n/a
8	STAT3	chr9:94768921-94768982	MCF10A-Er-Src	breast:	n/a	n/a
9	USF1	chr9:94766643-94766799	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94759552..94762482-chr9:94762532..94767082,4	K562	blood:
2	chr9:94766208..94767936-chr9:94768192..94770688,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTLC1-1	chr9:94766310-94766591	XLOC_007778

No data

Variant related genes	Relation type
ENSG00000227399	TF binding region
ENSG00000227399	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 70 )

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	rs368228576	chr9:94766202-94766203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75802429	chr9:94766226-94766227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73653014	chr9:94766235-94766236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186612444	chr9:94766247-94766248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116304211	chr9:94766278-94766279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140667089	chr9:94766397-94766398	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs547858651	chr9:94766435-94766436	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs78660324	chr9:94766475-94766476	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs62567925	chr9:94766571-94766572	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551905622	chr9:94766601-94766602	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192597632	chr9:94766637-94766638	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7851249	chr9:94766647-94766648	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs546960371	chr9:94766774-94766775	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568259804	chr9:94766789-94766790	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531885258	chr9:94766796-94766797	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565477825	chr9:94766829-94766830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369387775	chr9:94766830-94766831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535678031	chr9:94766856-94766857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557475641	chr9:94766871-94766872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550466385	chr9:94766872-94766873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569269394	chr9:94766890-94766891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372669006	chr9:94766919-94766920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539793631	chr9:94766920-94766921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557870996	chr9:94766940-94766941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573229917	chr9:94766989-94766990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34558180	chr9:94767027-94767028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs13299925	chr9:94767029-94767030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369468767	chr9:94767051-94767052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376898294	chr9:94767072-94767073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540521908	chr9:94767075-94767076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555667757	chr9:94767106-94767107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370244392	chr9:94767111-94767112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573879531	chr9:94767134-94767135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544415390	chr9:94767145-94767146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563367502	chr9:94767196-94767197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56796203	chr9:94767229-94767230	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs56013334	chr9:94767320-94767321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545740809	chr9:94767347-94767348	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563919515	chr9:94767424-94767425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs58679317	chr9:94767432-94767433	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61456615	chr9:94767443-94767444	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568400979	chr9:94767447-94767448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529066196	chr9:94767454-94767455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115267957	chr9:94767455-94767456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569288039	chr9:94767493-94767494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184353805	chr9:94767547-94767548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566212666	chr9:94767556-94767557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558278028	chr9:94767566-94767567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190462364	chr9:94767595-94767596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566730707	chr9:94767650-94767651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94764800-94767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:94765600-94766600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:94766000-94766200	Bivalent Enhancer	Placenta	Placenta
4	chr9:94766200-94767000	Enhancers	Placenta	Placenta
5	chr9:94766600-94781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:94767200-94767400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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