Variant report

Variant	nsv961714
Chromosome Location	chr2:31298724-31305343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:31296323..31299006-chr2:31301351..31302915,2	K562	blood:
2	chr2:31304831..31306526-chr2:31316132..31318060,2	K562	blood:
3	chr2:31296323..31299006-chr2:31301351..31302915,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPN14-2	chr2:31301800-31301932	NONHSAT069929

Extended variants
information (count: 278 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:278 , 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	rs561444532	chr2:31298732-31298733	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4337517	chr2:31298734-31298735	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113425635	chr2:31298744-31298745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9973425	chr2:31298769-31298770	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557119770	chr2:31298799-31298800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183922929	chr2:31298890-31298891	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556621278	chr2:31298891-31298892	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs115959712	chr2:31298920-31298921	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs117281680	chr2:31298938-31298939	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568907233	chr2:31298956-31298957	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531910565	chr2:31298958-31298959	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546426776	chr2:31298962-31298963	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552034653	chr2:31298978-31298979	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571812270	chr2:31299036-31299037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534423893	chr2:31299058-31299059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577917324	chr2:31299067-31299068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111939514	chr2:31299091-31299092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13406927	chr2:31299108-31299109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145762558	chr2:31299135-31299136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535532408	chr2:31299146-31299147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555432948	chr2:31299153-31299154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575299566	chr2:31299155-31299156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549829043	chr2:31299195-31299196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78821046	chr2:31299209-31299210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543829668	chr2:31299339-31299340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6705710	chr2:31299435-31299436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577815197	chr2:31299448-31299449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542950174	chr2:31299456-31299457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370823980	chr2:31299479-31299480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72130131	chr2:31299484-31299485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147102000	chr2:31299493-31299494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368202995	chr2:31299495-31299496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59824499	chr2:31299496-31299497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200475526	chr2:31299497-31299498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560079666	chr2:31299499-31299500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397873459	chr2:31299509-31299510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143011863	chr2:31299511-31299512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542690459	chr2:31299518-31299519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375044084	chr2:31299521-31299522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13394045	chr2:31299597-31299598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146167282	chr2:31299609-31299610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139808351	chr2:31299635-31299636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551457734	chr2:31299653-31299654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571909281	chr2:31299681-31299682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141169256	chr2:31299688-31299689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531980848	chr2:31299755-31299756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150724229	chr2:31299756-31299757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367672230	chr2:31299758-31299759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535580700	chr2:31299778-31299779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139074172	chr2:31299839-31299840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	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
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
5	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
6	chr2:31294000-31301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:31294400-31301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:31297200-31301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:31297600-31299400	Enhancers	Fetal Stomach	stomach
12	chr2:31297800-31298800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:31297800-31299400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:31298000-31298800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:31298000-31298800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:31298000-31298800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:31298000-31299000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:31298000-31299000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:31298000-31299000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:31298000-31299200	Enhancers	Fetal Brain Female	brain
21	chr2:31298200-31298800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:31298200-31298800	Enhancers	Fetal Brain Male	brain
23	chr2:31298200-31299000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:31298200-31299000	Enhancers	Fetal Lung	lung
25	chr2:31298200-31299200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:31298200-31299200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:31298400-31298800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:31298400-31299000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:31298400-31299000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:31298400-31299000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:31298400-31299000	Enhancers	Brain Germinal Matrix	brain
32	chr2:31298400-31299400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:31298400-31299400	Enhancers	NHEK	skin
34	chr2:31298400-31299800	Enhancers	HMEC	breast
35	chr2:31298600-31299000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:31298600-31299000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr2:31298600-31299400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:31298800-31299200	Enhancers	Lung	lung
39	chr2:31298800-31300600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:31298800-31301000	Weak transcription	Fetal Brain Male	brain
41	chr2:31299000-31299200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:31299000-31299800	Weak transcription	Esophagus	oesophagus
43	chr2:31299000-31299800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:31299000-31300600	Weak transcription	Brain Germinal Matrix	brain
45	chr2:31299000-31301600	Weak transcription	NHDF-Ad	bronchial
46	chr2:31299200-31301200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:31299200-31301400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:31299200-31301600	Weak transcription	Fetal Brain Female	brain
49	chr2:31299400-31300400	Weak transcription	Fetal Stomach	stomach
50	chr2:31299400-31301600	Weak transcription	NHEK	skin

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