Variant report

Variant	esv3343959
Chromosome Location	chr2:10662151-10664649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10651055..10653921-chr2:10663036..10664618,2	K562	blood:
2	chr2:10650088..10652035-chr2:10662005..10663540,2	MCF-7	breast:
3	chr2:10660893..10663493-chr2:10697519..10700150,2	K562	blood:
4	chr2:10638581..10640912-chr2:10660415..10663385,2	MCF-7	breast:
5	chr2:10656282..10658609-chr2:10661566..10663626,2	K562	blood:
6	chr2:10662032..10664872-chr2:10664978..10666678,2	K562	blood:
7	chr2:10660141..10662446-chr2:10692139..10693932,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546618338	chr2:10662178-10662179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565299846	chr2:10662199-10662200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532332060	chr2:10662285-10662286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550575513	chr2:10662361-10662362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12466300	chr2:10662366-10662367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536373567	chr2:10662429-10662430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192851844	chr2:10662497-10662498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566991667	chr2:10662546-10662547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534501138	chr2:10662564-10662565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71439015	chr2:10662572-10662573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12466371	chr2:10662582-10662583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12477495	chr2:10662584-10662585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115150225	chr2:10662590-10662591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577623768	chr2:10662598-10662599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544988667	chr2:10662624-10662625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557020080	chr2:10662742-10662743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576104688	chr2:10662793-10662794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545160667	chr2:10662832-10662833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73180555	chr2:10662870-10662871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561127707	chr2:10662881-10662882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543108862	chr2:10662885-10662886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373066976	chr2:10662931-10662932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9751307	chr2:10662974-10662975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs202033051	chr2:10663085-10663086	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113521172	chr2:10663122-10663123	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564802711	chr2:10663123-10663124	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11892596	chr2:10663149-10663150	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs11887760	chr2:10663183-10663184	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550538460	chr2:10663190-10663191	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577114190	chr2:10663228-10663229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189405061	chr2:10663238-10663239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62128570	chr2:10663239-10663240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11683200	chr2:10663267-10663268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530058613	chr2:10663355-10663356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534094794	chr2:10663389-10663390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552821920	chr2:10663404-10663405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571133770	chr2:10663405-10663406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192667215	chr2:10663439-10663440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556981252	chr2:10663503-10663504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144391595	chr2:10663504-10663505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536343508	chr2:10663530-10663531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34898571	chr2:10663555-10663556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12470348	chr2:10663567-10663568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs146595173	chr2:10663597-10663598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546404457	chr2:10663603-10663604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373752767	chr2:10663604-10663605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564764020	chr2:10663614-10663615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576709751	chr2:10663662-10663663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544138016	chr2:10663697-10663698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184909237	chr2:10663751-10663752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10658600-10662400	Weak transcription	Spleen	Spleen
2	chr2:10658600-10662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:10660200-10663200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:10660600-10662400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:10660600-10662400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:10661400-10662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10661400-10662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:10661400-10662400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:10661600-10662400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:10661800-10662200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr2:10662400-10665200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:10662400-10665600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:10662600-10662800	Enhancers	Lung	lung
14	chr2:10662800-10663000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:10663000-10663200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr2:10663000-10663200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:10663000-10672000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:10663200-10663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:10663800-10664400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:10664400-10666400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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