Variant report

Variant	nsv583235
Chromosome Location	chr2:142496985-142514657
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	chr2:142507099..142509499-chr2:142523507..142526473,2	MCF-7	breast:
2	chr2:142490796..142492464-chr2:142496207..142498068,2	K562	blood:

Extended variants
information (count: 194 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs10469560	chr2:142496985-142496986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114513711	chr2:142497001-142497002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72985382	chr2:142497017-142497018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117498986	chr2:142497177-142497178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185925005	chr2:142497178-142497179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577258641	chr2:142497182-142497183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545840262	chr2:142497191-142497192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563464683	chr2:142497211-142497212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72985383	chr2:142497220-142497221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530110334	chr2:142497249-142497250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35659529	chr2:142497250-142497251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200421551	chr2:142497262-142497263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575189267	chr2:142497298-142497299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551964633	chr2:142497301-142497302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565800629	chr2:142497309-142497310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534434332	chr2:142497381-142497382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116688757	chr2:142497397-142497398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138987496	chr2:142497417-142497418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73963575	chr2:142497434-142497435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556477087	chr2:142497489-142497490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73963576	chr2:142497522-142497523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539258274	chr2:142497569-142497570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145023710	chr2:142497622-142497623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374792646	chr2:142497628-142497629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147650574	chr2:142497634-142497635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112602664	chr2:142497644-142497645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191078392	chr2:142497703-142497704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554963453	chr2:142497711-142497712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182382945	chr2:142497740-142497741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367909809	chr2:142497805-142497806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187093005	chr2:142497898-142497899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543738618	chr2:142497908-142497909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563602010	chr2:142497992-142497993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540332518	chr2:142498104-142498105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560033015	chr2:142498114-142498115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532192594	chr2:142498121-142498122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190364232	chr2:142498124-142498125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532244424	chr2:142498194-142498195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76994084	chr2:142498197-142498198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564538845	chr2:142498224-142498225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528138484	chr2:142498242-142498243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182839458	chr2:142498353-142498354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17802099	chr2:142498357-142498358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530453396	chr2:142498359-142498360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550047573	chr2:142498406-142498407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569982879	chr2:142498432-142498433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538988006	chr2:142498450-142498451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559061763	chr2:142498479-142498480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566151716	chr2:142498493-142498494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188775830	chr2:142498511-142498512	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142486400-142501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:142507200-142507600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:142507200-142507800	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links