Variant report

Variant	nsv527135
Chromosome Location	chr2:52957024-53019822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB3-1	chr2:52959880-52959915	ENSG00000228033

Extended variants
information (count: 269 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530846924	chr2:52959805-52959806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34442299	chr2:52959843-52959844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550860150	chr2:52959873-52959874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564540089	chr2:52959920-52959921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533152669	chr2:52959927-52959928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145263050	chr2:52959934-52959935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566845529	chr2:52959944-52959945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546995857	chr2:52959948-52959949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190531667	chr2:52959971-52959972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1843039	chr2:52959983-52959984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536138364	chr2:52960004-52960005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569083610	chr2:52960018-52960019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538179539	chr2:52960069-52960070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567992242	chr2:52960075-52960076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558144566	chr2:52960085-52960086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576815840	chr2:52960099-52960100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182961945	chr2:52960114-52960115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188799125	chr2:52960149-52960150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192696414	chr2:52960164-52960165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147687663	chr2:52960173-52960174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142456392	chr2:52960202-52960203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13401973	chr2:52960203-52960204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371977067	chr2:52960206-52960207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575496396	chr2:52960222-52960223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114246426	chr2:52960237-52960238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149761216	chr2:52960260-52960261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533407690	chr2:52960284-52960285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2603423	chr2:52960298-52960299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7592488	chr2:52960329-52960330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529371699	chr2:52960367-52960368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113532836	chr2:52960472-52960473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549048454	chr2:52960482-52960483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145710994	chr2:52960484-52960485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183284938	chr2:52960519-52960520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373143962	chr2:52960571-52960572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148941476	chr2:52960574-52960575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545519237	chr2:52960619-52960620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7592833	chr2:52960639-52960640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552714821	chr2:52960641-52960642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566440316	chr2:52960703-52960704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2626390	chr2:52960727-52960728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187456703	chr2:52960745-52960746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191336800	chr2:52960748-52960749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544067448	chr2:52960766-52960767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375728655	chr2:52960794-52960795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547449539	chr2:52960885-52960886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561787203	chr2:52960887-52960888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557896772	chr2:52960950-52960951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73931435	chr2:52960964-52960965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540493998	chr2:52960993-52960994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52959800-52960600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:52959800-52961200	Enhancers	Stomach Mucosa	stomach
3	chr2:52960000-52960400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:52960000-52960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:52960000-52960400	Enhancers	Spleen	Spleen
6	chr2:52960000-52960600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:52960000-52960600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:52960200-52960600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:52960200-52960600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:52960600-52961600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:52961200-52961600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:52961600-52961800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:52968200-52968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:52972800-52973400	Active TSS	Fetal Heart	heart
15	chr2:53003600-53004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:53003800-53004200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:53004200-53006400	Enhancers	Fetal Intestine Large	intestine

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