Variant report

Variant	nsv961918
Chromosome Location	chr2:184471601-184472843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148946556	chr2:184471618-184471619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535815139	chr2:184471661-184471662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574827593	chr2:184471720-184471721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538688645	chr2:184471755-184471756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35722930	chr2:184471800-184471801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145567691	chr2:184471832-184471833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554307329	chr2:184471835-184471836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558908983	chr2:184471840-184471841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577375269	chr2:184471844-184471845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572280986	chr2:184471892-184471893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546230412	chr2:184471898-184471899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147718088	chr2:184471905-184471906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576494196	chr2:184471942-184471943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73046348	chr2:184471951-184471952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372134686	chr2:184471961-184471962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7340208	chr2:184471975-184471976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527552459	chr2:184471977-184471978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547392985	chr2:184471996-184471997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564269157	chr2:184472015-184472016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532987215	chr2:184472061-184472062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113901702	chr2:184472066-184472067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569454541	chr2:184472083-184472084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535069381	chr2:184472094-184472095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187628460	chr2:184472123-184472124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565359953	chr2:184472139-184472140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190735533	chr2:184472143-184472144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554173086	chr2:184472170-184472171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182467782	chr2:184472177-184472178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376279667	chr2:184472212-184472213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539684568	chr2:184472346-184472347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186799731	chr2:184472350-184472351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576636104	chr2:184472355-184472356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376790836	chr2:184472364-184472365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562025475	chr2:184472420-184472421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61733054	chr2:184472428-184472429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557316619	chr2:184472432-184472433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146899119	chr2:184472443-184472444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564273632	chr2:184472457-184472458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533142428	chr2:184472458-184472459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549744151	chr2:184472514-184472515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61733053	chr2:184472582-184472583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528928134	chr2:184472634-184472635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548677406	chr2:184472663-184472664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190074874	chr2:184472666-184472667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61733052	chr2:184472682-184472683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs61733051	chr2:184472711-184472712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs16824811	chr2:184472721-184472722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539999057	chr2:184472735-184472736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556765134	chr2:184472737-184472738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570276565	chr2:184472769-184472770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184470000-184475600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:184470000-184478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:184470200-184474800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:184471000-184471800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:184471200-184471800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:184471200-184471800	Enhancers	HepG2	liver
7	chr2:184471600-184475400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:184471800-184474600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:184472000-184472400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:184472800-184473200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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