Variant report

Variant	nsv961518
Chromosome Location	chr2:152496377-152497078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370996408	chr2:152496419-152496420	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373827041	chr2:152496423-152496424	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367619283	chr2:152496437-152496438	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200307392	chr2:152496459-152496460	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375997049	chr2:152496461-152496462	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567102938	chr2:152496511-152496512	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368373064	chr2:152496522-152496523	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6713162	chr2:152496526-152496527	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs201707021	chr2:152496541-152496542	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372669969	chr2:152496547-152496548	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376630715	chr2:152496551-152496552	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569573558	chr2:152496586-152496587	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537810047	chr2:152496601-152496602	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554964408	chr2:152496682-152496683	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181097573	chr2:152496683-152496684	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112486602	chr2:152496694-152496695	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577815440	chr2:152496709-152496710	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540749546	chr2:152496740-152496741	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552878499	chr2:152496744-152496745	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572744443	chr2:152496751-152496752	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376091169	chr2:152496754-152496755	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545299279	chr2:152496818-152496819	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368703295	chr2:152496855-152496856	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373799650	chr2:152496872-152496873	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377096416	chr2:152496885-152496886	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369283016	chr2:152496907-152496908	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115784515	chr2:152496908-152496909	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200729207	chr2:152496910-152496911	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150135749	chr2:152496911-152496912	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374466769	chr2:152496912-152496913	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375721498	chr2:152496926-152496927	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200386897	chr2:152496929-152496930	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370002964	chr2:152496957-152496958	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113952741	chr2:152496962-152496963	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560965487	chr2:152496965-152496966	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529735446	chr2:152496972-152496973	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368155040	chr2:152496998-152496999	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200624735	chr2:152497001-152497002	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183998406	chr2:152497055-152497056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375313114	chr2:152497058-152497059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368217121	chr2:152497064-152497065	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560231650	chr2:152497069-152497070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152482000-152502400	Strong transcription	Fetal Muscle Leg	muscle
2	chr2:152482000-152507600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:152488600-152499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:152489600-152505200	Strong transcription	HSMMtube	muscle
5	chr2:152492000-152504000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:152492000-152506800	Weak transcription	Psoas Muscle	Psoas
7	chr2:152492400-152497000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:152494200-152496600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:152494400-152496600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:152494400-152497000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:152494400-152497200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:152494600-152496800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:152495000-152501800	Weak transcription	Right Ventricle	heart
14	chr2:152495200-152497200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:152495200-152500000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:152495200-152502400	Weak transcription	Aorta	Aorta
17	chr2:152495400-152496400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:152495400-152496400	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:152495400-152496400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:152495400-152496600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:152495400-152496800	Enhancers	Primary T cells from cord blood	blood
22	chr2:152495400-152496800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:152495400-152497000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:152495600-152496400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:152495600-152496800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:152495600-152497000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:152495800-152496800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:152496000-152497800	Weak transcription	HepG2	liver
29	chr2:152496400-152497200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:152496400-152497200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:152497000-152497800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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