Variant report

Variant	nsv458263
Chromosome Location	chr2:76976626-76994984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 764 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12713881	chr2:76976626-76976627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187257342	chr2:76976668-76976669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12713882	chr2:76976705-76976706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147147990	chr2:76976772-76976773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140283063	chr2:76976773-76976774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567355322	chr2:76976776-76976777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13014978	chr2:76976799-76976800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs530767385	chr2:76976819-76976820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552262477	chr2:76976866-76976867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570567449	chr2:76976869-76976870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563123684	chr2:76976875-76976876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113275421	chr2:76976921-76976922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75198959	chr2:76976964-76976965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568084180	chr2:76976981-76976982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536540214	chr2:76976990-76976991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554881093	chr2:76977016-76977017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192134724	chr2:76977043-76977044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543609843	chr2:76977052-76977053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184524845	chr2:76977085-76977086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546274607	chr2:76977101-76977102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138965377	chr2:76977108-76977109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571222049	chr2:76977115-76977116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377063244	chr2:76977144-76977145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559464356	chr2:76977150-76977151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4600694	chr2:76977182-76977183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189508872	chr2:76977183-76977184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192274343	chr2:76977184-76977185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144535789	chr2:76977198-76977199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530631473	chr2:76977216-76977217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28374915	chr2:76977262-76977263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565622842	chr2:76977342-76977343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72917757	chr2:76977408-76977409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115599564	chr2:76977473-76977474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570495378	chr2:76977482-76977483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147843650	chr2:76977490-76977491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546704696	chr2:76977492-76977493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557233949	chr2:76977505-76977506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567951618	chr2:76977508-76977509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77408066	chr2:76977528-76977529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368337558	chr2:76977539-76977540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570032803	chr2:76977631-76977632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537214624	chr2:76977636-76977637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558709699	chr2:76977645-76977646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568682342	chr2:76977663-76977664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140299466	chr2:76977671-76977672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534803920	chr2:76977675-76977676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371233863	chr2:76977730-76977731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374439708	chr2:76977756-76977757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7590874	chr2:76977770-76977771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs59960669	chr2:76977814-76977815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76963800-76985800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76973400-76989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:76974800-76986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:76976800-76977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:76976800-76977400	Enhancers	Dnd41	blood
6	chr2:76977000-76977600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:76977200-76977400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:76977600-76981800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:76978600-76979400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:76979400-76988200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:76979600-76980600	Enhancers	Fetal Heart	heart
12	chr2:76981600-76981800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:76981600-76982200	Enhancers	Gastric	stomach
14	chr2:76981800-76982000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:76981800-76982200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:76982000-76982200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:76982000-76986400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:76982200-76984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:76982200-76984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:76983800-76984600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:76984200-76988600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:76984600-76985000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:76984600-76985400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:76984600-76986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:76985000-76985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:76985400-76985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:76985400-76986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:76985600-76986600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:76985800-76988000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:76986200-76988200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:76986400-76986600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:76986400-76986600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:76986400-76987000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:76986600-76987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:76986600-76987600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:76986600-76987600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:76986600-76988000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:76986800-76987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:76987000-76987800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:76987200-76987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:76987600-76988000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:76987600-76988400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:76987600-76989000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:76987800-76988000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:76987800-76988600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:76987800-76988600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:76988000-76989000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:76988000-76998400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:76988200-76990400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr2:76989200-76989400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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