Variant report

Variant	nsv521881
Chromosome Location	chr2:144668249-144669586
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	chr2:144667965..144669703-chr2:144669954..144671489,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs787176	chr2:144668249-144668250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55941136	chr2:144668265-144668266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140382987	chr2:144668273-144668274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377165678	chr2:144668275-144668276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541862456	chr2:144668289-144668290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560065898	chr2:144668296-144668297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184387068	chr2:144668308-144668309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552409989	chr2:144668338-144668339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62169044	chr2:144668372-144668373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535313522	chr2:144668386-144668387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56318108	chr2:144668428-144668429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189622091	chr2:144668442-144668443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548510935	chr2:144668470-144668471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10622666	chr2:144668494-144668495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199829612	chr2:144668495-144668496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57420574	chr2:144668515-144668516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59332997	chr2:144668530-144668531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180850502	chr2:144668560-144668561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112481106	chr2:144668576-144668577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184290588	chr2:144668578-144668579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112330090	chr2:144668669-144668670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188537666	chr2:144668684-144668685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566017452	chr2:144668720-144668721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181669789	chr2:144668743-144668744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35215323	chr2:144668835-144668836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558417671	chr2:144668853-144668854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576605206	chr2:144668873-144668874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143591305	chr2:144668874-144668875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555963481	chr2:144668999-144669000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76823047	chr2:144669012-144669013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541900915	chr2:144669017-144669018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185898267	chr2:144669046-144669047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs787177	chr2:144669058-144669059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190414088	chr2:144669059-144669060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182551490	chr2:144669107-144669108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531038257	chr2:144669134-144669135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543226391	chr2:144669182-144669183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561514525	chr2:144669220-144669221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139428875	chr2:144669243-144669244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547445806	chr2:144669281-144669282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187167184	chr2:144669358-144669359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565980803	chr2:144669367-144669368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150056440	chr2:144669399-144669400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79116294	chr2:144669464-144669465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570908015	chr2:144669492-144669493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191146432	chr2:144669503-144669504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541562454	chr2:144669515-144669516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10496954	chr2:144669586-144669587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144661400-144671600	Weak transcription	Ovary	ovary
2	chr2:144668000-144673800	Weak transcription	Fetal Lung	lung

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