Variant report

Variant	nsv978977
Chromosome Location	chr2:10647516-10652468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10588188..10589773-chr2:10645938..10648141,2	K562	blood:
2	chr2:10650088..10652035-chr2:10662005..10663540,2	MCF-7	breast:
3	chr2:10642460..10644626-chr2:10645333..10647878,3	K562	blood:
4	chr2:10642578..10644778-chr2:10652202..10654281,2	K562	blood:
5	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
6	chr2:10644733..10647834-chr2:10649580..10651474,4	K562	blood:
7	chr2:10638262..10640651-chr2:10646289..10648231,2	MCF-7	breast:
8	chr2:10645039..10647150-chr2:10648824..10651474,2	K562	blood:
9	chr2:10642439..10644523-chr2:10645794..10649242,3	K562	blood:
10	chr2:10644733..10647834-chr2:10649580..10651474,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257135	chromatin interactions
ENSG00000115758	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35727517	chr2:10647596-10647597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs571776214	chr2:10647625-10647626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112756332	chr2:10647653-10647654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185403982	chr2:10647723-10647724	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539127077	chr2:10647742-10647743	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs116611197	chr2:10647778-10647779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs13004435	chr2:10647855-10647856	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189933922	chr2:10647870-10647871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561882119	chr2:10647871-10647872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573987964	chr2:10647887-10647888	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs818188	chr2:10647890-10647891	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143369163	chr2:10647896-10647897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116254927	chr2:10647908-10647909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551612168	chr2:10647918-10647919	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146714839	chr2:10647959-10647960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs148876706	chr2:10647985-10647986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549646411	chr2:10647998-10647999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150189886	chr2:10648001-10648002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567814553	chr2:10648016-10648017	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535002806	chr2:10648018-10648019	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181572179	chr2:10648019-10648020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186340570	chr2:10648034-10648035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs818187	chr2:10648059-10648060	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557608831	chr2:10648060-10648061	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369824886	chr2:10648115-10648116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536800337	chr2:10648118-10648119	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555548477	chr2:10648156-10648157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs818186	chr2:10648182-10648183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531223701	chr2:10648196-10648197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541358795	chr2:10648208-10648209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35929807	chr2:10648225-10648226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80309485	chr2:10648237-10648238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559760769	chr2:10648256-10648257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151013596	chr2:10648328-10648329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75362345	chr2:10648344-10648345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370158640	chr2:10648368-10648369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563675952	chr2:10648381-10648382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531035883	chr2:10648447-10648448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188362622	chr2:10648472-10648473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561169747	chr2:10648550-10648551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528739677	chr2:10648612-10648613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546923427	chr2:10648620-10648621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565331271	chr2:10648631-10648632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114070038	chr2:10648639-10648640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548204253	chr2:10648643-10648644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140926368	chr2:10648684-10648685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569611673	chr2:10648691-10648692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180878644	chr2:10648701-10648702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115074981	chr2:10648712-10648713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375125980	chr2:10648737-10648738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10634800-10654400	Weak transcription	Right Atrium	heart
2	chr2:10645600-10658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:10647400-10647600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:10648600-10654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:10652000-10652600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:10652400-10652600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:10652400-10652600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:10652400-10652600	Enhancers	HMEC	breast

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