Variant report

Variant	nsv516149
Chromosome Location	chr2:77979650-78001566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-10	chr2:77997871-77998038	l_1869_chr2:77996540-77998625_testes
2	lnc-REG3G-10	chr2:77996568-77996727	NONHSAT071832
3	lnc-REG3G-10	chr2:77998337-77998625	l_1869_chr2:77996540-77998625_testes
4	lnc-REG3G-10	chr2:77996541-77996727	l_1869_chr2:77996540-77998625_testes
5	lnc-REG3G-10	chr2:77998337-77998643	NONHSAT071832
6	lnc-REG3G-10	chr2:77997871-77998038	NONHSAT071832

No data

Extended variants
information (count: 435 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6722155	chr2:77979650-77979651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552377400	chr2:77979721-77979722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570540163	chr2:77979729-77979730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146326837	chr2:77979773-77979774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139552417	chr2:77979774-77979775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181798287	chr2:77979794-77979795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559929375	chr2:77979859-77979860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144211263	chr2:77979876-77979877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542514287	chr2:77979888-77979889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115707996	chr2:77979895-77979896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531501190	chr2:77979948-77979949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386647619	chr2:77979974-77979975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7558983	chr2:77979975-77979976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7558985	chr2:77979978-77979979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7573072	chr2:77980038-77980039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374901870	chr2:77980073-77980074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186154118	chr2:77980081-77980082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113137501	chr2:77980095-77980096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190627237	chr2:77980099-77980100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570408495	chr2:77980100-77980101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7588183	chr2:77980106-77980107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540114151	chr2:77980112-77980113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557768189	chr2:77980124-77980125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181386291	chr2:77980157-77980158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540342763	chr2:77980171-77980172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7562077	chr2:77980209-77980210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573508827	chr2:77980217-77980218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7575968	chr2:77980226-77980227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145167613	chr2:77980232-77980233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186528538	chr2:77980265-77980266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7562185	chr2:77980299-77980300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7562190	chr2:77980321-77980322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148798007	chr2:77980353-77980354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547915561	chr2:77980396-77980397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567800675	chr2:77980414-77980415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113804440	chr2:77980423-77980424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572845270	chr2:77980439-77980440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550424093	chr2:77980440-77980441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183152813	chr2:77980451-77980452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539332740	chr2:77980460-77980461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10179533	chr2:77980470-77980471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571221867	chr2:77980483-77980484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533511092	chr2:77980507-77980508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553345821	chr2:77980525-77980526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187444174	chr2:77980534-77980535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191115995	chr2:77980540-77980541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555977037	chr2:77980544-77980545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576122525	chr2:77980588-77980589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142435312	chr2:77980627-77980628	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113540204	chr2:77980630-77980631	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77975200-77980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:77979400-77980000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr2:77980000-77980800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:77980400-77980600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:77980600-77980800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:77980600-77981400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:77980600-77981400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:77980600-77981400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:77980600-77981400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:77980600-77981400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:77980600-77981600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr2:77980600-77981600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:77980800-77981200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:77980800-77981400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:77980800-77981400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:77980800-77981400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:77980800-77981400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:77980800-77981600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:77980800-77981600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:77980800-77981600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:77994400-77994800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:77994600-77995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:77994600-77996200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:77995000-77995200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:77995000-77997400	Weak transcription	Right Atrium	heart
26	chr2:77995200-77996200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:77996200-77996400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:77996200-77996400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:77996400-77999800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:77999800-78000400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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