Variant report

Variant	esv12838
Chromosome Location	chr2:21414273-21415132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570633909	chr2:21414280-21414281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539152072	chr2:21414285-21414286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559079620	chr2:21414316-21414317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570112378	chr2:21414331-21414332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573155036	chr2:21414397-21414398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185748121	chr2:21414404-21414405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75249613	chr2:21414433-21414434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185393962	chr2:21414462-21414463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78615081	chr2:21414486-21414487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114519895	chr2:21414527-21414528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553959858	chr2:21414543-21414544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66528440	chr2:21414551-21414552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577004975	chr2:21414584-21414585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180886858	chr2:21414598-21414599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113156606	chr2:21414638-21414639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150368031	chr2:21414642-21414643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188523286	chr2:21414663-21414664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113549391	chr2:21414683-21414684	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77400629	chr2:21414686-21414687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75888309	chr2:21414691-21414692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531374715	chr2:21414703-21414704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541472948	chr2:21414713-21414714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34101893	chr2:21414715-21414716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34811662	chr2:21414717-21414718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185992473	chr2:21414721-21414722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375792826	chr2:21414746-21414747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36125361	chr2:21414748-21414749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375379535	chr2:21414751-21414752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386643902	chr2:21414755-21414756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2435386	chr2:21414760-21414761	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570694591	chr2:21414763-21414764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559924523	chr2:21414790-21414791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191947642	chr2:21414793-21414794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376669770	chr2:21414805-21414806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183587286	chr2:21414815-21414816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576052851	chr2:21414830-21414831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77089628	chr2:21414846-21414847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538290758	chr2:21414856-21414857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554687770	chr2:21414857-21414858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111596512	chr2:21414873-21414874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192113542	chr2:21414878-21414879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182161961	chr2:21414903-21414904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573617318	chr2:21414907-21414908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186683567	chr2:21414911-21414912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540885771	chr2:21414935-21414936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556301445	chr2:21414973-21414974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576061683	chr2:21414974-21414975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191482584	chr2:21414987-21414988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35168234	chr2:21415031-21415032	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182604117	chr2:21415037-21415038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21413400-21419400	Weak transcription	Fetal Brain Male	brain
2	chr2:21414600-21415000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:21415000-21415200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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