Variant report

Variant	nsv581887
Chromosome Location	chr2:51883456-51927714
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	2:51664217-51674289..2:51887872-51889464	H1-hESC	embryonic stem cell:	embryo
2	chr17:57919582..57921747-chr2:51927078..51928640,2	MCF-7	breast:
3	chr2:51909335..51911785-chr2:51912950..51915647,2	K562	blood:
4	2:51664217-51674289..2:51908308-51914662	H1-hESC	embryonic stem cell:	embryo
5	chr2:51909335..51911785-chr2:51912950..51915647,2	K562	blood:

Extended variants
information (count: 979 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566198565	chr2:51886602-51886603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533790049	chr2:51886611-51886612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529450913	chr2:51886652-51886653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369966053	chr2:51886670-51886671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550728520	chr2:51886671-51886672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369413865	chr2:51886694-51886695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569131023	chr2:51886732-51886733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190629291	chr2:51886753-51886754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144822215	chr2:51886762-51886763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373133588	chr2:51886778-51886779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534244543	chr2:51886793-51886794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13383595	chr2:51886797-51886798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376599718	chr2:51886824-51886825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573909922	chr2:51886833-51886834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553453108	chr2:51886837-51886838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538151227	chr2:51886862-51886863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556365288	chr2:51886864-51886865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72886399	chr2:51886875-51886876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545118243	chr2:51886883-51886884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553880694	chr2:51886902-51886903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183342206	chr2:51886934-51886935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542644258	chr2:51886935-51886936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560738108	chr2:51886942-51886943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72886402	chr2:51886943-51886944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544508265	chr2:51886957-51886958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75019168	chr2:51886964-51886965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562703034	chr2:51886980-51886981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533387972	chr2:51887003-51887004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551456927	chr2:51887026-51887027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566982657	chr2:51887043-51887044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76972477	chr2:51887050-51887051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549321451	chr2:51887091-51887092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72888207	chr2:51887162-51887163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538090006	chr2:51887166-51887167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556540642	chr2:51887184-51887185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186251388	chr2:51887217-51887218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571466850	chr2:51887228-51887229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538867655	chr2:51887263-51887264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28961618	chr2:51887306-51887307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567375047	chr2:51887324-51887325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572072770	chr2:51887340-51887341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190748256	chr2:51887377-51887378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535942050	chr2:51887378-51887379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542380410	chr2:51887383-51887384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554503514	chr2:51887385-51887386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11563117	chr2:51887441-51887442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544492150	chr2:51887473-51887474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182980647	chr2:51887532-51887533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147810316	chr2:51887564-51887565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188056723	chr2:51887565-51887566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51886600-51887200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:51886800-51887200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:51886800-51887400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:51887200-51888600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:51887200-51888600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:51887400-51888600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:51887600-51887800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:51887800-51888400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:51887800-51888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:51887800-51889000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:51888200-51888400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:51888400-51889000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:51888400-51891800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:51888600-51889000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:51888600-51889000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:51888600-51889200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:51888800-51889000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:51888800-51889200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:51888800-51889600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:51889000-51889400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:51889000-51889400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:51889000-51889400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:51889000-51889800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:51889000-51891200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:51889200-51889400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:51889200-51890600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:51889400-51889600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:51889400-51889800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:51889400-51891200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:51889400-51891400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:51889600-51890600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:51889600-51890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:51889800-51891400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:51889800-51892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:51890600-51891000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:51890600-51891000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:51890800-51891400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:51891800-51892000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
39	chr2:51892000-51892200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:51892400-51893000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr2:51893000-51900400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:51898600-51898800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:51898800-51899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:51899000-51899200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:51899000-51900400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:51899000-51900800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:51899400-51900600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:51900000-51902200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:51900400-51900800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:51900400-51901400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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