Variant report

Variant	nsv961782
Chromosome Location	chr2:63977227-63979716
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	chr2:63975082..63977676-chr2:64069510..64071160,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGP2-2	chr2:63977594-63978119	NONHSAT071072

Variant related genes	Relation type
ENSG00000169764	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181975626	chr2:63977265-63977266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs115108604	chr2:63977296-63977297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534751440	chr2:63977308-63977309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187364461	chr2:63977396-63977397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192187031	chr2:63977402-63977403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183619027	chr2:63977473-63977474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188614674	chr2:63977474-63977475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370125429	chr2:63977529-63977530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190134456	chr2:63977646-63977647	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs138224038	chr2:63977652-63977653	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs577386612	chr2:63977673-63977674	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs538360922	chr2:63977691-63977692	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs556558988	chr2:63977739-63977740	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554644151	chr2:63977790-63977791	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs574746666	chr2:63977793-63977794	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs201225917	chr2:63977877-63977878	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs537439220	chr2:63977915-63977916	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs542105101	chr2:63977926-63977927	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs560229772	chr2:63977943-63977944	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs534158597	chr2:63977958-63977959	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs557106653	chr2:63978060-63978061	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs572190565	chr2:63978076-63978077	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs545621434	chr2:63978105-63978106	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563961475	chr2:63978122-63978123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149550396	chr2:63978123-63978124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373582523	chr2:63978175-63978176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144245227	chr2:63978197-63978198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182371374	chr2:63978206-63978207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548852737	chr2:63978278-63978279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567083645	chr2:63978427-63978428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577466091	chr2:63978478-63978479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546219664	chr2:63978487-63978488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186726770	chr2:63978503-63978504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191142897	chr2:63978518-63978519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115382874	chr2:63978549-63978550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148472155	chr2:63978565-63978566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57531829	chr2:63978577-63978578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556430776	chr2:63978648-63978649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56025046	chr2:63978652-63978653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541921391	chr2:63978696-63978697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556142279	chr2:63978704-63978705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574767716	chr2:63978706-63978707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59189491	chr2:63978725-63978726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554012821	chr2:63978752-63978753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572219710	chr2:63978852-63978853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55759043	chr2:63978871-63978872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545707232	chr2:63978879-63978880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114812497	chr2:63978912-63978913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79910719	chr2:63978947-63978948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182768167	chr2:63979088-63979089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63970000-63979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:63970200-63980400	Weak transcription	Adipose Nuclei	Adipose
3	chr2:63970400-63982200	Weak transcription	Psoas Muscle	Psoas
4	chr2:63973000-63992800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:63973200-63990400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:63974800-63982200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:63975200-63990200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:63976400-64028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:63976600-63983200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:63978800-63979200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:63978800-63979800	Enhancers	Pancreas	Pancrea
12	chr2:63978800-63981200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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