Variant report

Variant	nsv961350
Chromosome Location	chr2:141931830-141937012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113911775	chr2:141932403-141932404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141829036	chr2:141932408-141932409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146284975	chr2:141932448-141932449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536435244	chr2:141932454-141932455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1714259	chr2:141932472-141932473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191496777	chr2:141932511-141932512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371826994	chr2:141932518-141932519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139204727	chr2:141932528-141932529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571699951	chr2:141932531-141932532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534459256	chr2:141932537-141932538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549822592	chr2:141932538-141932539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554222813	chr2:141932558-141932559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570328268	chr2:141932562-141932563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574185712	chr2:141932566-141932567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543172362	chr2:141932580-141932581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183763245	chr2:141932606-141932607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576629112	chr2:141932610-141932611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10191501	chr2:141932651-141932652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530452126	chr2:141932675-141932676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188639025	chr2:141932703-141932704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72980139	chr2:141932729-141932730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190928875	chr2:141932765-141932766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561401861	chr2:141932792-141932793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529872314	chr2:141932793-141932794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148734083	chr2:141932798-141932799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569863866	chr2:141932813-141932814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs183442833	chr2:141932821-141932822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186621543	chr2:141932824-141932825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548878622	chr2:141932896-141932897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191412744	chr2:141932897-141932898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111228542	chr2:141932909-141932910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183898358	chr2:141932936-141932937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs115678146	chr2:141932937-141932938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1714260	chr2:141932944-141932945	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188340985	chr2:141932949-141932950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192831457	chr2:141933014-141933015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs1714261	chr2:141933044-141933045	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369777302	chr2:141933077-141933078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373549063	chr2:141933127-141933128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185310893	chr2:141933144-141933145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147870106	chr2:141933146-141933147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190191062	chr2:141933158-141933159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs192517382	chr2:141933191-141933192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs3941808	chr2:141933211-141933212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530171519	chr2:141933225-141933226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs141590773	chr2:141933236-141933237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185087902	chr2:141933243-141933244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570858001	chr2:141933261-141933262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs535092088	chr2:141933310-141933311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532154247	chr2:141933312-141933313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141932400-141932800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:141932800-141933400	ZNF genes & repeats	Brain Substantia Nigra	brain
3	chr2:141933000-141933600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:141933000-141933800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:141933000-141933800	ZNF genes & repeats	Dnd41	blood
6	chr2:141933400-141933800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links