Variant report

Variant	nsv1067832
Chromosome Location	chr2:152502272-152504773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152504736..152506561-chr2:152512908..152515654,2	MCF-7	breast:
2	chr2:152492617..152495101-chr2:152500321..152502341,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80358246	chr2:152502272-152502273	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529190897	chr2:152502291-152502292	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542473359	chr2:152502333-152502334	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4378803	chr2:152502363-152502364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76673047	chr2:152502380-152502381	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183061446	chr2:152502414-152502415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571287692	chr2:152502421-152502422	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570844805	chr2:152502485-152502486	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530604506	chr2:152502513-152502514	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550913954	chr2:152502518-152502519	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567810005	chr2:152502550-152502551	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200970764	chr2:152502592-152502593	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186852328	chr2:152502593-152502594	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35292878	chr2:152502666-152502667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202245789	chr2:152502700-152502701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200486452	chr2:152502703-152502704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201625994	chr2:152502726-152502727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149430473	chr2:152502739-152502740	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373588820	chr2:152502746-152502747	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534770042	chr2:152502753-152502754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373412519	chr2:152502781-152502782	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376798329	chr2:152502791-152502792	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539072071	chr2:152502801-152502802	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558890527	chr2:152502835-152502836	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575672064	chr2:152502856-152502857	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191596517	chr2:152502887-152502888	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556886468	chr2:152502892-152502893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573733338	chr2:152502918-152502919	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542410070	chr2:152503008-152503009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76264092	chr2:152503017-152503018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183097140	chr2:152503082-152503083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374331837	chr2:152503148-152503149	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559720970	chr2:152503225-152503226	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555665510	chr2:152503227-152503228	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144841789	chr2:152503242-152503243	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116662255	chr2:152503272-152503273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550607466	chr2:152503277-152503278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567250105	chr2:152503324-152503325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530360366	chr2:152503325-152503326	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553055781	chr2:152503326-152503327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114427517	chr2:152503355-152503356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115049343	chr2:152503360-152503361	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148550869	chr2:152503361-152503362	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141955633	chr2:152503362-152503363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569192098	chr2:152503365-152503366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187729385	chr2:152503400-152503401	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555092927	chr2:152503404-152503405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192691122	chr2:152503482-152503483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55720586	chr2:152503502-152503503	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147306586	chr2:152503513-152503514	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:29 , 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	chr2:152489600-152505200	Strong transcription	HSMMtube	muscle
4	chr2:152492000-152504000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:152492000-152506800	Weak transcription	Psoas Muscle	Psoas
6	chr2:152495200-152502400	Weak transcription	Aorta	Aorta
7	chr2:152500000-152512200	Weak transcription	Pancreas	Pancrea
8	chr2:152500400-152506600	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:152501400-152502600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:152501400-152503600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:152502200-152523000	Weak transcription	Placenta	Placenta
12	chr2:152502400-152503200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:152502600-152503600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:152502600-152506400	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:152502800-152503200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:152502800-152503400	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:152502800-152503600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:152503000-152503400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:152503000-152503400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:152503200-152503400	Enhancers	Primary B cells from cord blood	blood
21	chr2:152503200-152507800	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:152503400-152504000	Weak transcription	Primary B cells from cord blood	blood
23	chr2:152503400-152506600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:152503600-152505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:152503600-152506000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:152504000-152504400	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr2:152504000-152505200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr2:152504400-152531600	Weak transcription	Primary B cells from cord blood	blood
29	chr2:152504600-152507600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links