Variant report

Variant	nsv998226
Chromosome Location	chr2:76919605-76949552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1985 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1985 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs985352	chr2:76919605-76919606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536250335	chr2:76919634-76919635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570427956	chr2:76919651-76919652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375509243	chr2:76919694-76919695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571531340	chr2:76919696-76919697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188910797	chr2:76919697-76919698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368811205	chr2:76919699-76919700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572312963	chr2:76919705-76919706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73939396	chr2:76919751-76919752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190993393	chr2:76919768-76919769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116514942	chr2:76919770-76919771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138138240	chr2:76919778-76919779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371677843	chr2:76919779-76919780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578199738	chr2:76919806-76919807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182753663	chr2:76919829-76919830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60492754	chr2:76919856-76919857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147487415	chr2:76919858-76919859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148095873	chr2:76919934-76919935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376582600	chr2:76919981-76919982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112066950	chr2:76919995-76919996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542688808	chr2:76919999-76920000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558860780	chr2:76920066-76920067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577416071	chr2:76920074-76920075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186835699	chr2:76920096-76920097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550166815	chr2:76920099-76920100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571401892	chr2:76920142-76920143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191723779	chr2:76920143-76920144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184224635	chr2:76920180-76920181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138183492	chr2:76920189-76920190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536486831	chr2:76920195-76920196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554672004	chr2:76920230-76920231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187451457	chr2:76920235-76920236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536596966	chr2:76920256-76920257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149565191	chr2:76920261-76920262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144255602	chr2:76920307-76920308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148716761	chr2:76920308-76920309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143930679	chr2:76920310-76920311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542712821	chr2:76920322-76920323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542827346	chr2:76920323-76920324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561015719	chr2:76920336-76920337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531833424	chr2:76920353-76920354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369079110	chr2:76920371-76920372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372006100	chr2:76920421-76920422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565281041	chr2:76920429-76920430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192960302	chr2:76920440-76920441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77773798	chr2:76920449-76920450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376912744	chr2:76920470-76920471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561132373	chr2:76920499-76920500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185634791	chr2:76920568-76920569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376559961	chr2:76920637-76920638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76906000-76926600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:76916000-76927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76918600-76927600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:76918800-76920200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:76922000-76922600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:76925600-76925800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:76926600-76926800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:76927800-76928400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:76928000-76928400	Enhancers	Fetal Heart	heart
10	chr2:76928400-76934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:76934800-76935200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:76934800-76936000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:76936000-76938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:76937000-76937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:76938400-76939000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:76938400-76939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:76938600-76939000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:76938600-76939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet

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