Variant report

Variant	nsv438373
Chromosome Location	chr2:151864071-151869808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151868019..151872391-chr2:151872649..151877183,5	K562	blood:
2	chr2:151869309..151871014-chr2:151874369..151876111,2	MCF-7	breast:
3	chr2:151867304..151868964-chr2:151869029..151870769,2	MCF-7	breast:
4	chr2:151867304..151868964-chr2:151869029..151870769,2	MCF-7	breast:

Extended variants
information (count: 207 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs936767	chr2:151864071-151864072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189883052	chr2:151864091-151864092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553915188	chr2:151864119-151864120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577148556	chr2:151864213-151864214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545853517	chr2:151864263-151864264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563193492	chr2:151864265-151864266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372933572	chr2:151864272-151864273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542442239	chr2:151864289-151864290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562262386	chr2:151864311-151864312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568702001	chr2:151864368-151864369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375937029	chr2:151864431-151864432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548969894	chr2:151864447-151864448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546659378	chr2:151864484-151864485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs5835339	chr2:151864492-151864493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397986277	chr2:151864495-151864496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112386120	chr2:151864534-151864535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114433979	chr2:151864539-151864540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531366672	chr2:151864625-151864626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182143869	chr2:151864632-151864633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187982561	chr2:151864633-151864634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551721000	chr2:151864647-151864648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568815059	chr2:151864678-151864679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139714155	chr2:151864683-151864684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548023832	chr2:151864691-151864692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190947824	chr2:151864714-151864715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76383884	chr2:151864720-151864721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13427267	chr2:151864821-151864822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554264440	chr2:151864846-151864847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577235261	chr2:151864911-151864912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79769149	chr2:151864913-151864914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183581337	chr2:151864968-151864969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577361032	chr2:151864974-151864975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149899678	chr2:151864991-151864992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10206535	chr2:151865022-151865023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562302663	chr2:151865066-151865067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188625220	chr2:151865078-151865079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541238208	chr2:151865083-151865084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10206650	chr2:151865157-151865158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560208153	chr2:151865250-151865251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192802513	chr2:151865284-151865285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539872883	chr2:151865328-151865329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184904533	chr2:151865413-151865414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74342069	chr2:151865415-151865416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531535182	chr2:151865418-151865419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186870292	chr2:151865426-151865427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72993561	chr2:151865445-151865446	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10206941	chr2:151865465-151865466	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191353198	chr2:151865490-151865491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148603987	chr2:151865493-151865494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539933515	chr2:151865539-151865540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151843800-151871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151863600-151864200	Enhancers	Fetal Brain Female	brain
3	chr2:151863600-151864400	Enhancers	Fetal Lung	lung
4	chr2:151863600-151865000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:151863800-151864400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:151863800-151864400	Enhancers	Fetal Brain Male	brain
7	chr2:151863800-151864400	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:151863800-151864400	Enhancers	Fetal Muscle Leg	muscle
9	chr2:151863800-151864600	Enhancers	Brain Germinal Matrix	brain
10	chr2:151864000-151864200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:151864000-151864200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:151864200-151865400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:151864200-151867200	Weak transcription	Fetal Brain Female	brain
14	chr2:151865400-151865600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:151865400-151865600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:151865400-151866400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:151865600-151866400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:151865600-151872800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:151866400-151866600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr2:151866400-151866600	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:151867200-151867800	Enhancers	Fetal Brain Female	brain
22	chr2:151868200-151868600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links