Variant report

Variant	nsv215437
Chromosome Location	chr2:142150051-142154682
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	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74571656	chr2:142150051-142150052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78889944	chr2:142150053-142150054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546868506	chr2:142150084-142150085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566353786	chr2:142150091-142150092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35689345	chr2:142150095-142150096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186860556	chr2:142150102-142150103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535423050	chr2:142150117-142150118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555219354	chr2:142150162-142150163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575276726	chr2:142150284-142150285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4346320	chr2:142150285-142150286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs557150540	chr2:142150307-142150308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576998593	chr2:142150319-142150320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189090991	chr2:142150371-142150372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181806139	chr2:142150412-142150413	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368199336	chr2:142150488-142150489	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201264067	chr2:142150495-142150496	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186418625	chr2:142150530-142150531	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs563215689	chr2:142150536-142150537	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191227444	chr2:142150542-142150543	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs115567149	chr2:142150550-142150551	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539743301	chr2:142150552-142150553	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558157572	chr2:142150567-142150568	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370696053	chr2:142150585-142150586	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182731648	chr2:142150593-142150594	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544689577	chr2:142150601-142150602	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs564276335	chr2:142150614-142150615	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10208014	chr2:142150620-142150621	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544802543	chr2:142150644-142150645	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368316983	chr2:142150654-142150655	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs76162632	chr2:142150656-142150657	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566757481	chr2:142150754-142150755	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528911076	chr2:142150773-142150774	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs551979362	chr2:142150793-142150794	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566823255	chr2:142150812-142150813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372637152	chr2:142150836-142150837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568725751	chr2:142150850-142150851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112744856	chr2:142150874-142150875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140509570	chr2:142150889-142150890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557387497	chr2:142150913-142150914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570721747	chr2:142151021-142151022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186081875	chr2:142151022-142151023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553276653	chr2:142151041-142151042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573465230	chr2:142151057-142151058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191279934	chr2:142151062-142151063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555753320	chr2:142151110-142151111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527800512	chr2:142151130-142151131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575502272	chr2:142151131-142151132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375936021	chr2:142151207-142151208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544728282	chr2:142151221-142151222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72983159	chr2:142151223-142151224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142148600-142151000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:142149000-142150400	Enhancers	Hela-S3	cervix
3	chr2:142149400-142150400	Enhancers	A549	lung
4	chr2:142149400-142151200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:142149600-142151400	Enhancers	HUVEC	blood vessel
6	chr2:142149800-142151600	Enhancers	NH-A	brain
7	chr2:142150000-142151000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:142150000-142151200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:142150200-142150800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:142150200-142150800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:142150400-142150800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:142150400-142150800	Flanking Active TSS	A549	lung
13	chr2:142150400-142150800	Flanking Active TSS	Hela-S3	cervix
14	chr2:142150600-142151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:142150800-142151400	Enhancers	A549	lung
16	chr2:142150800-142152200	Enhancers	Hela-S3	cervix
17	chr2:142151200-142151800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:142151200-142152000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:142151800-142152000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:142152000-142152400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:142152400-142152600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:142152600-142153600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:142154200-142155200	Enhancers	Dnd41	blood

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