Variant report

Variant	nsv526332
Chromosome Location	chr2:142208793-142210528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13029426	chr2:142208793-142208794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376589661	chr2:142208853-142208854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573362914	chr2:142208861-142208862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563492475	chr2:142208942-142208943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532639522	chr2:142208965-142208966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150486792	chr2:142208976-142208977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559195482	chr2:142208998-142208999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188190734	chr2:142209011-142209012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540486358	chr2:142209052-142209053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547768939	chr2:142209068-142209069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138255316	chr2:142209087-142209088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537146469	chr2:142209089-142209090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112568809	chr2:142209093-142209094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570240148	chr2:142209113-142209114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538822030	chr2:142209135-142209136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559223995	chr2:142209145-142209146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375603505	chr2:142209164-142209165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572754287	chr2:142209180-142209181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144486174	chr2:142209183-142209184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554991507	chr2:142209190-142209191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7597816	chr2:142209192-142209193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35599654	chr2:142209194-142209195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563600537	chr2:142209197-142209198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7571303	chr2:142209205-142209206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34943179	chr2:142209273-142209274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139246951	chr2:142209298-142209299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142329995	chr2:142209315-142209316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59243666	chr2:142209318-142209319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188648245	chr2:142209364-142209365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528361321	chr2:142209383-142209384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111711405	chr2:142209400-142209401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547830653	chr2:142209450-142209451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4132921	chr2:142209477-142209478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530385465	chr2:142209498-142209499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562535858	chr2:142209530-142209531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550666229	chr2:142209648-142209649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370904539	chr2:142209681-142209682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570422959	chr2:142209687-142209688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78166900	chr2:142209792-142209793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552786839	chr2:142209819-142209820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181477918	chr2:142209820-142209821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570678832	chr2:142209894-142209895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535329664	chr2:142209919-142209920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376936663	chr2:142209937-142209938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150012644	chr2:142209945-142209946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555252912	chr2:142209949-142209950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574904169	chr2:142209979-142209980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117066399	chr2:142209998-142209999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386651237	chr2:142210056-142210057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142351802	chr2:142210058-142210059	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
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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142206600-142212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:142206800-142212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:142207000-142212200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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